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dbVar

Database of genomic structural variation

nsv4658223

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:7,600

Description:nsv4579557 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 134 SVs from 32 studies. See in: genome view

Remapped(Score: Good):150,304,025-150,311,624

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4658223	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	150,304,025	150,311,624
nsv4658223	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	150,276,453	150,284,068

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16200274	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16200274	Remapped	Good	NC_000001.11:g.(?_ 150304025)_(150311 624_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	150,304,025	150,311,624
nssv16200274	Submitted genomic		NC_000001.10:g.(?_ 150276453)_(150284 068_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	150,276,453	150,284,068

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16200274	0.015	13	845

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