A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034672



Internal ID15887858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69554768hg38UCSC Ensembl
Innerchr5:68834042..68850595hg19UCSC Ensembl
Innerchr5:68869798..68886351hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3816554
hg1916554
hg1816554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598437
Supporting Variants
Samples
Known GenesLOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034672
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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