A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599744



Internal ID16040467
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 StatusM
Merged Variants
Supporting Variantsnssv1154005
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)nsv599744
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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