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dbVar

Database of genomic structural variation

nsv3910092

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:6,962,025

Description:NCBI36/hg18 2q23.3-24.1(chr2:152186442-159075323)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: 15950 SVs from 125 studies. See in: genome view

Remapped(Score: Perfect):151,573,255-158,535,279

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
nsv3910092	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	151,573,255	151,573,255	158,535,279	158,535,279
nsv3910092	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	152,429,769	152,478,196	159,367,077	159,391,791
nsv3910092	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	152,138,015	152,186,442	159,075,323	159,100,037

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127276	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451592.2, VCV000398451.2	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
nssv15127276	Remapped	Perfect	NC_000002.12:g.(15 1573255_151573255) _(158535279_158535 279)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	151,573,255	151,573,255	158,535,279	158,535,279
nssv15127276	Remapped	Perfect	NC_000002.11:g.(15 2429769_152478196) _(159367077_159391 791)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	152,429,769	152,478,196	159,367,077	159,391,791
nssv15127276	Submitted genomic		NC_000002.10:g.(15 2138015_152186442) _(159075323_159100 037)del	NCBI36 (hg18)		NC_000002.10	Chr2	152,138,015	152,186,442	159,075,323	159,100,037

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
nssv15127276	NCBI36: NC_000002.10:g.(152138015_152186442)_(159075323_159100037)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451592.2, VCV000398451.2	1

No genotype data were submitted for this variant

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