A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv667345



Internal ID15057311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74427734..74483364hg38UCSC Ensembl
Innerchr2:74654861..74710491hg19UCSC Ensembl
Innerchr2:74508369..74563999hg18UCSC Ensembl
Innerchr2:74566516..74622146hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3855631
hg1955631
hg1855631
hg1755631
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515851
Supporting Variants
Samples
Known GenesCCDC142, INO80B, INO80B-WBP1, MOGS, MRPL53, RTKN, TTC31, WBP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv667345
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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