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dbVar

Database of genomic structural variation

nsv4716589

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:3,753,073

Description:GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735) AND duplication 8q12

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: 8565 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):59,114,104-62,867,176

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4716589	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	59,114,104	62,867,176
nsv4716589	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	60,026,663	63,779,735

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16252260	copy number gain	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV001255692.2, VCV000977789.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16252260	Remapped	Perfect	NC_000008.11:g.(?_ 59114104)_(6286717 6_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	59,114,104	62,867,176
nssv16252260	Submitted genomic		NC_000008.10:g.(?_ 60026663)_(6377973 5_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	60,026,663	63,779,735

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
nssv16252260	GRCh37: NC_000008.10:g.(?_60026663)_(63779735_?)dup	copy number gain	de novo	See cases	Likely pathogenic	ClinVar	RCV001255692.2, VCV000977789.2

No genotype data were submitted for this variant

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