A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003202



Internal ID18745733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232344012..232429517hg38UCSC Ensembl
Innerchr2:233208722..233294227hg19UCSC Ensembl
Innerchr2:232916966..233002471hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3885506
hg1985506
hg1885506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4182n100
Supporting Variantsnssv3586873
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)nsv1003202
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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