A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729371



Internal ID18680966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232347151..232444356hg38UCSC Ensembl
Innerchr2:233211861..233309066hg19UCSC Ensembl
Innerchr2:232920105..233017310hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3897206
hg1997206
hg1897206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002951
Supporting Variants
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729371
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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