A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538334



Internal ID15511762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28811682..28902719hg38UCSC Ensembl
Innerchr5:28811789..28902826hg19UCSC Ensembl
Innerchr5:28847546..28938583hg18UCSC Ensembl
Innerchr5:28847546..28938583hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3891038
hg1991038
hg1891038
hg1791038
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462071
Supporting Variants
SamplesNINDS_142
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)nssv538334
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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