A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591162



Internal ID16378571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100631901..100714131hg38UCSC Ensembl
Innerchr3:100350745..100432975hg19UCSC Ensembl
Innerchr3:101833435..101915665hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3882231
hg1982231
hg1882231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8479n54
Supporting Variantsnssv970698, nssv1152004, nssv970696, nssv970697
SamplesNINDS_253
Known GenesGPR128, TFG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591162
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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