A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536630



Internal ID15157225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188931546..188991217hg38UCSC Ensembl
Innerchr2:189796272..189855943hg19UCSC Ensembl
Innerchr2:189504517..189564188hg18UCSC Ensembl
Innerchr2:189621778..189681449hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3859672
hg1959672
hg1859672
hg1759672
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459992
Supporting Variants
Samples1780862459_A
Known GenesCOL3A1, MIR1245A, MIR1245B
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)nssv536630
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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