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dbVar

Database of genomic structural variation

nsv3917182

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:440,413

Description:NCBI36/hg18 2q32.1(chr2:188635173-189041049)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: 1203 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):188,042,826-188,483,238

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
nsv3917182	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	188,042,826	188,062,201	188,468,077	188,483,238
nsv3917182	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	188,907,553	188,926,928	189,332,804	189,347,965
nsv3917182	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	188,615,798	188,635,173	189,041,049	189,056,210

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127081	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450209.2, VCV000393637.2	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
nssv15127081	Remapped	Perfect	NC_000002.12:g.(18 8042826_188062201) _(188468077_188483 238)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	188,042,826	188,062,201	188,468,077	188,483,238
nssv15127081	Remapped	Perfect	NC_000002.11:g.(18 8907553_188926928) _(189332804_189347 965)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	188,907,553	188,926,928	189,332,804	189,347,965
nssv15127081	Submitted genomic		NC_000002.10:g.(18 8615798_188635173) _(189041049_189056 210)dup	NCBI36 (hg18)		NC_000002.10	Chr2	188,615,798	188,635,173	189,041,049	189,056,210

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
nssv15127081	NCBI36: NC_000002.10:g.(188615798_188635173)_(189041049_189056210)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450209.2, VCV000393637.2	3

No genotype data were submitted for this variant

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