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dbVar

Database of genomic structural variation

nsv6634444

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:5,174,084

Description:GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1 AND See cases

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: 23784 SVs from 121 studies. See in: genome view

Remapped(Score: Good):74,957,980-80,132,063

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6634444	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	74,957,980	80,132,063
nsv6634444	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	72,669,936	77,889,946

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326315	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV002293965.1, VCV001712252.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18326315	Remapped	Good	NC_000018.10:g.(74 957980_?)_(?_80132 063)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	74,957,980	80,132,063
nssv18326315	Submitted genomic		NC_000018.9:g.(726 69936_?)_(?_778899 46)del	GRCh37 (hg19)		NC_000018.9	Chr18	72,669,936	77,889,946

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
nssv18326315	GRCh37: NC_000018.9:g.(72669936_?)_(?_77889946)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV002293965.1, VCV001712252.1	1

No genotype data were submitted for this variant

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