A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153997



Internal ID15878403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126586076..126753498hg38UCSC Ensembl
Innerchr5:125921768..126089190hg19UCSC Ensembl
Innerchr5:125949667..126117089hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38167423
hg19167423
hg18167423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599662
Supporting Variants
SamplesHGDP01194
Known GenesALDH7A1, C5orf48, PHAX
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153997
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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