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dbVar

Database of genomic structural variation

nsv7137140

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:1,872,888

Description:GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966) AND Cholestasis

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: 5659 SVs from 101 studies. See in: genome view

Remapped(Score: Perfect):57,352,847-59,225,734

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137140	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	57,352,847	59,225,734
nsv7137140	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	55,020,078	56,892,966

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830811	copy number loss	Multiple	Multiple	Cholestasis; Cholestasis	Pathogenic	ClinVar	RCV003236725.1, VCV002506541.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830811	Remapped	Perfect	NC_000018.10:g.(?_ 57352847)_(5922573 4_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	57,352,847	59,225,734
nssv18830811	Submitted genomic		NC_000018.9:g.(?_5 5020078)_(56892966 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	55,020,078	56,892,966

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
nssv18830811	GRCh37: NC_000018.9:g.(?_55020078)_(56892966_?)del	copy number loss	germline	Cholestasis; Cholestasis	Pathogenic	ClinVar	RCV003236725.1, VCV002506541.1

No genotype data were submitted for this variant

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