A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538673



Internal ID15510113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:174165357..174189696hg38UCSC Ensembl
Innerchr5:173592360..173616699hg19UCSC Ensembl
Innerchr5:173524966..173549305hg18UCSC Ensembl
Innerchr5:173524966..173549305hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3824340
hg1924340
hg1824340
hg1724340
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462534
Supporting Variants
SamplesHGDP01190
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv538673
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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