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dbVar

Database of genomic structural variation

nsv3921316

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:9,790,689

Description:NCBI36/hg18 2q24.1-24.3(chr2:155654482-165398588)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: 21442 SVs from 123 studies. See in: genome view

Remapped(Score: Perfect):155,059,457-164,850,145

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
nsv3921316	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	155,059,457	155,059,457	164,850,145	164,850,145
nsv3921316	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	155,915,969	155,946,236	165,690,342	165,706,655
nsv3921316	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	155,624,215	155,654,482	165,398,588	165,414,901

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126040	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451023.2, VCV000400065.2	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
nssv15126040	Remapped	Perfect	NC_000002.12:g.(15 5059457_155059457) _(164850145_164850 145)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	155,059,457	155,059,457	164,850,145	164,850,145
nssv15126040	Remapped	Perfect	NC_000002.11:g.(15 5915969_155946236) _(165690342_165706 655)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	155,915,969	155,946,236	165,690,342	165,706,655
nssv15126040	Submitted genomic		NC_000002.10:g.(15 5624215_155654482) _(165398588_165414 901)del	NCBI36 (hg18)		NC_000002.10	Chr2	155,624,215	155,654,482	165,398,588	165,414,901

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
nssv15126040	NCBI36: NC_000002.10:g.(155624215_155654482)_(165398588_165414901)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451023.2, VCV000400065.2	1

No genotype data were submitted for this variant

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