A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536949



Internal ID15165594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4656425..4751836hg38UCSC Ensembl
Innerchr3:4698109..4793520hg19UCSC Ensembl
Innerchr3:4673109..4768520hg18UCSC Ensembl
Innerchr3:4673109..4768520hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3895412
hg1995412
hg1895412
hg1795412
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460357
Supporting Variants
SamplesNINDS_223
Known GenesEGOT, ITPR1
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)nssv536949
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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