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dbVar

Database of genomic structural variation

nsv3921443

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:297,225

Description:NCBI36/hg18 6p21.33(chr6:31326772-31553767)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: 4835 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):31,216,279-31,513,503

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
nsv3921443	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,216,279	31,251,016	31,478,011	31,513,503
nsv3921443	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	-	2,584,647	2,755,941	-
nsv3921443	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	-	2,554,383	2,818,581	2,818,581
nsv3921443	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,184,056	31,218,793	31,445,788	31,481,280
nsv3921443	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_7	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	-	2,583,945	2,755,239	-
nsv3921443	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_4	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	-	2,560,003	2,824,201	2,824,201
nsv3921443	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	31,292,035	31,326,772	31,553,767	31,589,259

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128979	copy number loss	Multiple	Multiple	See cases	Benign	ClinVar	RCV000453681.2, VCV000399552.2	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
nssv15128979	Remapped	Pass	NT_167246.2:g.(?_2 554383)_(2818581_2 818581)del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	-	2,554,383	2,818,581	2,818,581
nssv15128979	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	-
nssv15128979	Remapped	Perfect	NC_000006.12:g.(31 216279_31251016)_( 31478011_31513503) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,216,279	31,251,016	31,478,011	31,513,503
nssv15128979	Remapped	Pass	NT_167246.1:g.(?_2 560003)_(2824201_2 824201)del	GRCh37.p13	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	-	2,560,003	2,824,201	2,824,201
nssv15128979	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	-
nssv15128979	Remapped	Perfect	NC_000006.11:g.(31 184056_31218793)_( 31445788_31481280) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,184,056	31,218,793	31,445,788	31,481,280
nssv15128979	Submitted genomic		NC_000006.10:g.(31 292035_31326772)_( 31553767_31589259) del	NCBI36 (hg18)		NC_000006.10	Chr6	31,292,035	31,326,772	31,553,767	31,589,259

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
nssv15128979	NCBI36: NC_000006.10:g.(31292035_31326772)_(31553767_31589259)del	copy number loss	not provided	See cases	Benign	ClinVar	RCV000453681.2, VCV000399552.2	1

No genotype data were submitted for this variant

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