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dbVar

Database of genomic structural variation

nsv3904683

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:151,327

Description:GRCh37/hg19 8q12.1(chr8:56722691-56874017)x3 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: 595 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):55,810,132-55,961,458

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3904683	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	55,810,132	55,961,458
nsv3904683	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	56,722,691	56,874,017

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15167564	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000747585.2, VCV000610949.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15167564	Remapped	Perfect	NC_000008.11:g.(?_ 55810132)_(5596145 8_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,810,132	55,961,458
nssv15167564	Submitted genomic		NC_000008.10:g.(?_ 56722691)_(5687401 7_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	56,722,691	56,874,017

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
nssv15167564	GRCh37: NC_000008.10:g.(?_56722691)_(56874017_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000747585.2, VCV000610949.2	3

No genotype data were submitted for this variant

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