A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580829



Internal ID18532424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130059754..130454126hg38UCSC Ensembl
Innerchr2:130817327..131211699hg19UCSC Ensembl
Innerchr2:130533797..130928169hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38394373
hg19394373
hg18394373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998333
Supporting Variants
Samples
Known GenesCCDC115, CCDC74B, CYP4F62P, FAR2P2, IMP4, MED15P9, MZT2B, POTEF, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580829
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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