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dbVar

Database of genomic structural variation

nsv3922163

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:6,713,592

Description:NCBI36/hg18 14q12-13.1(chr14:26269654-32938435)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: 17284 SVs from 117 studies. See in: genome view

Remapped(Score: Good):26,704,808-33,418,399

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
nsv3922163	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	26,704,808	26,704,808	33,418,399	33,418,399
nsv3922163	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	27,174,014	27,174,014	33,887,605	33,887,605
nsv3922163	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000014.7	Chr14	26,243,854	26,269,654	32,938,435	32,957,356

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124675	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450090.2, VCV000398847.2	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
nssv15124675	Remapped	Good	NC_000014.9:g.(267 04808_26704808)_(3 3418399_33418399)d up	GRCh38.p12	First Pass	NC_000014.9	Chr14	26,704,808	26,704,808	33,418,399	33,418,399
nssv15124675	Remapped	Good	NC_000014.8:g.(271 74014_27174014)_(3 3887605_33887605)d up	GRCh37.p13	First Pass	NC_000014.8	Chr14	27,174,014	27,174,014	33,887,605	33,887,605
nssv15124675	Submitted genomic		NC_000014.7:g.(262 43854_26269654)_(3 2938435_32957356)d up	NCBI36 (hg18)		NC_000014.7	Chr14	26,243,854	26,269,654	32,938,435	32,957,356

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
nssv15124675	NCBI36: NC_000014.7:g.(26243854_26269654)_(32938435_32957356)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000450090.2, VCV000398847.2	3

No genotype data were submitted for this variant

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