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dbVar

Database of genomic structural variation

nsv4436741

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:173,227

Description:GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 AND multiple conditions

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: 443 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):67,643,840-67,817,066

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
nsv4436741	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	67,643,840	67,659,604	67,802,336	67,817,066
nsv4436741	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	68,110,557	68,126,321	68,269,053	68,283,783

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15755116	copy number gain	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Blepharophimosis; Blepharophimosis; Hemangioma; Hemangioma; Ptosis; Ptosis	Uncertain significance	ClinVar	RCV000787291.2, VCV000635772.2	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
nssv15755116	Remapped	Perfect	NC_000014.9:g.(676 43840_67659604)_(6 7802336_67817066)d up	GRCh38.p12	First Pass	NC_000014.9	Chr14	67,643,840	67,659,604	67,802,336	67,817,066
nssv15755116	Submitted genomic		NC_000014.8:g.(681 10557_68126321)_(6 8269053_68283783)d up	GRCh37 (hg19)		NC_000014.8	Chr14	68,110,557	68,126,321	68,269,053	68,283,783

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
nssv15755116	GRCh37: NC_000014.8:g.(68110557_68126321)_(68269053_68283783)dup	copy number gain	unknown	Abnormal facial shape; Abnormal facial shape; Blepharophimosis; Blepharophimosis; Hemangioma; Hemangioma; Ptosis; Ptosis	Uncertain significance	ClinVar	RCV000787291.2, VCV000635772.2	3

No genotype data were submitted for this variant

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