A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729372



Internal ID18680967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232354038..232445348hg38UCSC Ensembl
Innerchr2:233218748..233310058hg19UCSC Ensembl
Innerchr2:232926992..233018302hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3891311
hg1991311
hg1891311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012157
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)nssv3729372
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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