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dbVar

Database of genomic structural variation

nsv3923309

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:2,091,981

Description:NCBI36/hg18 22q13.1-13.2(chr22:37888161-39942667)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: 5808 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):39,147,442-41,239,422

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
nsv3923309	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	39,147,442	39,147,442	41,239,422	41,239,422
nsv3923309	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	39,543,447	39,558,215	41,612,721	41,635,426
nsv3923309	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000022.9	Chr22	37,873,393	37,888,161	39,942,667	39,965,372

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124667	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450044.2, VCV000401535.2	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
nssv15124667	Remapped	Perfect	NC_000022.11:g.(39 147442_39147442)_( 41239422_41239422) dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,147,442	39,147,442	41,239,422	41,239,422
nssv15124667	Remapped	Perfect	NC_000022.10:g.(39 543447_39558215)_( 41612721_41635426) dup	GRCh37.p13	First Pass	NC_000022.10	Chr22	39,543,447	39,558,215	41,612,721	41,635,426
nssv15124667	Submitted genomic		NC_000022.9:g.(378 73393_37888161)_(3 9942667_39965372)d up	NCBI36 (hg18)		NC_000022.9	Chr22	37,873,393	37,888,161	39,942,667	39,965,372

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
nssv15124667	NCBI36: NC_000022.9:g.(37873393_37888161)_(39942667_39965372)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450044.2, VCV000401535.2	3

No genotype data were submitted for this variant

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