A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537491



Internal ID15158301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32566811..32685350hg38UCSC Ensembl
Innerchr1:33032412..33150951hg19UCSC Ensembl
Innerchr1:32804999..32923538hg18UCSC Ensembl
Innerchr1:32701505..32820044hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38118540
hg19118540
hg18118540
hg17118540
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461039
Supporting Variants
SamplesHGDP00017
Known GenesRBBP4, SYNC, ZBTB8A, ZBTB8OS
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)nssv537491
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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