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dbVar

Database of genomic structural variation

nsv6291566

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:773,792

Description:GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4 AND not provided

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: 2732 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):102,404,908-103,178,699

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6291566	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	102,404,908	103,178,699
nsv6291566	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	102,871,245	103,645,036

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17957341	copy number gain	Multiple	Multiple	not provided	not provided	ClinVar	RCV001825177.1, VCV001339794.1	4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17957341	Remapped	Perfect	NC_000014.9:g.(?_1 02404908)_(1031786 99_?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	102,404,908	103,178,699
nssv17957341	Submitted genomic		NC_000014.8:g.(?_1 02871245)_(1036450 36_?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	102,871,245	103,645,036

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
nssv17957341	GRCh37: NC_000014.8:g.(?_102871245)_(103645036_?)dup	copy number gain	unknown	not provided	not provided	ClinVar	RCV001825177.1, VCV001339794.1	4

No genotype data were submitted for this variant

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