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dbVar

Database of genomic structural variation

nsv3910611

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:1,072,631

Description:NCBI36/hg18 2p11.2(chr2:89263352-89871273)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: 4133 SVs from 111 studies. See in: genome view

Remapped(Score: Pass):89,139,985-90,212,615

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
nsv3910611	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	89,139,985	89,139,985	90,212,615	90,212,615
nsv3910611	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	89,439,468	89,439,468	90,251,481	90,251,481
nsv3910611	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	89,220,583	89,263,352	89,871,273	89,888,786

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127342	copy number loss	Multiple	Multiple	See cases	Benign	ClinVar	RCV000452251.2, VCV000401786.2	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
nssv15127342	Remapped	Pass	NC_000002.12:g.(89 139985_89139985)_( 90212615_90212615) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,139,985	89,139,985	90,212,615	90,212,615
nssv15127342	Remapped	Pass	NC_000002.11:g.(89 439468_89439468)_( 90251481_90251481) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	89,439,468	89,439,468	90,251,481	90,251,481
nssv15127342	Submitted genomic		NC_000002.10:g.(89 220583_89263352)_( 89871273_89888786) del	NCBI36 (hg18)		NC_000002.10	Chr2	89,220,583	89,263,352	89,871,273	89,888,786

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
nssv15127342	NCBI36: NC_000002.10:g.(89220583_89263352)_(89871273_89888786)del	copy number loss	not provided	See cases	Benign	ClinVar	RCV000452251.2, VCV000401786.2	1

No genotype data were submitted for this variant

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