A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536628



Internal ID15505505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187742676..187818928hg38UCSC Ensembl
Innerchr2:188607403..188683655hg19UCSC Ensembl
Innerchr2:188315648..188391900hg18UCSC Ensembl
Innerchr2:188432909..188509161hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3876253
hg1976253
hg1876253
hg1776253
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv459990
Supporting Variants
SamplesHGDP00144
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)nssv536628
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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