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dbVar

Database of genomic structural variation

nsv6112802

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:54,210,319

Description:GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)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: 153729 SVs from 139 studies. See in: genome view

Remapped(Score: Good):26,046,775-80,257,093

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112802	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	26,046,775	80,257,093
nsv6112802	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	23,626,739	78,014,976

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649868	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537911.4, VCV001180529.4	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649868	Remapped	Good	NC_000018.10:g.260 46775_80257093dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	26,046,775	80,257,093
nssv17649868	Submitted genomic		NC_000018.9:g.2362 6739_78014976dup	GRCh37 (hg19)		NC_000018.9	Chr18	23,626,739	78,014,976

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
nssv17649868	GRCh37: NC_000018.9:g.23626739_78014976dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV001537911.4, VCV001180529.4	3

No genotype data were submitted for this variant

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