A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1154005



Internal ID15534340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135012266..135070292hg38UCSC Ensembl
Innerchr5:134347956..134405982hg19UCSC Ensembl
Innerchr5:134375855..134433881hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3858027
hg1958027
hg1858027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599744
Supporting Variants
SamplesNINDS_60
Known GenesC5orf66, LOC101927953, PITX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1154005
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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