A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150647



Internal ID15533166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45323108..45408744hg38UCSC Ensembl
Innerchr19:45826366..45912002hg19UCSC Ensembl
Innerchr19:50518206..50603842hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3885637
hg1985637
hg1885637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv579867
Supporting Variants
SamplesNINDS_116
Known GenesCD3EAP, ERCC1, ERCC2, KLC3, PPP1R13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150647
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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