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dbVar

Database of genomic structural variation

nsv3914743

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:289,037

Description:NCBI36/hg18 6p21.33(chr6:31362981-31589318)x1 AND See cases

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 4621 SVs from 117 studies. See in: genome view

Remapped(Score: Perfect):31,268,394-31,557,430

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3914743	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,268,394	31,287,225	31,513,562	31,557,430
nsv3914743	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	-	2,584,647	2,755,941	-
nsv3914743	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	2,577,446	2,577,446	2,862,477	2,862,477
nsv3914743	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,236,171	31,255,002	31,481,339	31,525,207
nsv3914743	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_7	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	-	2,583,945	2,755,239	-
nsv3914743	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_4	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	2,583,066	2,583,066	2,868,097	2,868,097
nsv3914743	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	31,344,150	31,362,981	31,589,318	31,633,186

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127809	copy number loss	Multiple	Multiple	See cases	Benign	ClinVar	RCV000452164.2, VCV000400395.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15127809	Remapped	Good	NT_167246.2:g.(257 7446_2577446)_(286 2477_2862477)del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	2,577,446	2,577,446	2,862,477	2,862,477
nssv15127809	Remapped	Pass	NT_167249.2:g.(?_2 584647)_(2755941_? )del	GRCh38.p12	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	-	2,584,647	2,755,941	-
nssv15127809	Remapped	Perfect	NC_000006.12:g.(31 268394_31287225)_( 31513562_31557430) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,268,394	31,287,225	31,513,562	31,557,430
nssv15127809	Remapped	Good	NT_167246.1:g.(258 3066_2583066)_(286 8097_2868097)del	GRCh37.p13	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	2,583,066	2,583,066	2,868,097	2,868,097
nssv15127809	Remapped	Pass	NT_167249.1:g.(?_2 583945)_(2755239_? )del	GRCh37.p13	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	-	2,583,945	2,755,239	-
nssv15127809	Remapped	Perfect	NC_000006.11:g.(31 236171_31255002)_( 31481339_31525207) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,236,171	31,255,002	31,481,339	31,525,207
nssv15127809	Submitted genomic		NC_000006.10:g.(31 344150_31362981)_( 31589318_31633186) del	NCBI36 (hg18)		NC_000006.10	Chr6	31,344,150	31,362,981	31,589,318	31,633,186

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127809	NCBI36: NC_000006.10:g.(31344150_31362981)_(31589318_31633186)del	copy number loss	not provided	See cases	Benign	ClinVar	RCV000452164.2, VCV000400395.2	1

No genotype data were submitted for this variant

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