A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462532



Internal ID15522597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172913819..172928036hg38UCSC Ensembl
Innerchr5:172340822..172355039hg19UCSC Ensembl
Innerchr5:172273428..172287645hg18UCSC Ensembl
Innerchr5:172273428..172287645hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3814218
hg1914218
hg1814218
hg1714218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538672
SamplesHGDP01001
Known GenesERGIC1
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)nsv462532
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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