A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151196



Internal ID15527095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240810727..241018260hg38UCSC Ensembl
Innerchr2:241750144..241957677hg19UCSC Ensembl
Innerchr2:241398817..241606350hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38207534
hg19207534
hg18207534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584861
Supporting Variants
SamplesHGDP00341
Known GenesAGXT, C2orf54, KIF1A, LOC200772, SNED1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151196
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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