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dbVar

Database of genomic structural variation

nsv3911811

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:46,721,330

Description:NCBI36/hg18 17q12-25.3(chr17:31840920-33584617)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: 142022 SVs from 149 studies. See in: genome view

Remapped(Score: Good):36,382,248-83,103,577

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
nsv3911811	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	36,382,248	36,382,248	83,103,577	83,103,577
nsv3911811	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	34,750,818	34,750,818	81,048,189	-
nsv3911811	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	31,824,931	31,840,920	33,584,617	78,654,742

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127168	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450366.2, VCV000401350.2	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
nssv15127168	Remapped	Good	NC_000017.11:g.(36 382248_36382248)_( 83103577_83103577) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	36,382,248	36,382,248	83,103,577	83,103,577
nssv15127168	Remapped	Good	NC_000017.10:g.(34 750818_34750818)_( 81048189_?)del	GRCh37.p13	First Pass	NC_000017.10	Chr17	34,750,818	34,750,818	81,048,189	-
nssv15127168	Submitted genomic		NC_000017.9:g.(318 24931_31840920)_(3 3584617_78654742)d el	NCBI36 (hg18)		NC_000017.9	Chr17	31,824,931	31,840,920	33,584,617	78,654,742

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
nssv15127168	NCBI36: NC_000017.9:g.(31824931_31840920)_(33584617_78654742)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000450366.2, VCV000401350.2	1

No genotype data were submitted for this variant

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