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dbVar

Database of genomic structural variation

nsv3896604

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:78,034

Description:GRCh37/hg19 8q21.2(chr8:86021909-86099942)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: 265 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):85,109,674-85,187,707

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3896604	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	85,109,674	85,187,707
nsv3896604	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	86,021,909	86,099,942

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15167615	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000747689.2, VCV000611053.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15167615	Remapped	Perfect	NC_000008.11:g.(?_ 85109674)_(8518770 7_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,109,674	85,187,707
nssv15167615	Submitted genomic		NC_000008.10:g.(?_ 86021909)_(8609994 2_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	86,021,909	86,099,942

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
nssv15167615	GRCh37: NC_000008.10:g.(?_86021909)_(86099942_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000747689.2, VCV000611053.2	3

No genotype data were submitted for this variant

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