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dbVar

Database of genomic structural variation

nsv3922602

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:169,464

Description:NCBI36/hg18 3q25.31(chr3:156589182-156691195)x3 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: 395 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):155,359,412-155,528,875

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
nsv3922602	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	155,359,412	155,388,699	155,490,712	155,528,875
nsv3922602	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	155,077,201	155,106,488	155,208,501	155,246,664
nsv3922602	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	156,559,895	156,589,182	156,691,195	156,729,358

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126612	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452132.2, VCV000400833.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126612	Remapped	Perfect	NC_000003.12:g.(15 5359412_155388699) _(155490712_155528 875)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	155,359,412	155,388,699	155,490,712	155,528,875
nssv15126612	Remapped	Perfect	NC_000003.11:g.(15 5077201_155106488) _(155208501_155246 664)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	155,077,201	155,106,488	155,208,501	155,246,664
nssv15126612	Submitted genomic		NC_000003.10:g.(15 6559895_156589182) _(156691195_156729 358)dup	NCBI36 (hg18)		NC_000003.10	Chr3	156,559,895	156,589,182	156,691,195	156,729,358

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
nssv15126612	NCBI36: NC_000003.10:g.(156559895_156589182)_(156691195_156729358)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452132.2, VCV000400833.2	3

No genotype data were submitted for this variant

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