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dbVar

Database of genomic structural variation

nsv3922653

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:4,893,432

Description:NCBI36/hg18 2q23.3-24.1(chr2:154516687-159370106)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: 10841 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):153,934,645-158,828,076

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
nsv3922653	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	153,934,645	153,934,645	158,828,076	158,828,076
nsv3922653	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	154,791,158	154,808,441	159,661,860	159,684,588
nsv3922653	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	154,499,404	154,516,687	159,370,106	159,392,834

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126165	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000449764.2, VCV000399952.2	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
nssv15126165	Remapped	Perfect	NC_000002.12:g.(15 3934645_153934645) _(158828076_158828 076)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	153,934,645	153,934,645	158,828,076	158,828,076
nssv15126165	Remapped	Perfect	NC_000002.11:g.(15 4791158_154808441) _(159661860_159684 588)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	154,791,158	154,808,441	159,661,860	159,684,588
nssv15126165	Submitted genomic		NC_000002.10:g.(15 4499404_154516687) _(159370106_159392 834)del	NCBI36 (hg18)		NC_000002.10	Chr2	154,499,404	154,516,687	159,370,106	159,392,834

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
nssv15126165	NCBI36: NC_000002.10:g.(154499404_154516687)_(159370106_159392834)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000449764.2, VCV000399952.2	1

No genotype data were submitted for this variant

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