A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536411



Internal ID15512395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142151616..142206407hg38UCSC Ensembl
Innerchr2:142909185..142963976hg19UCSC Ensembl
Innerchr2:142625655..142680446hg18UCSC Ensembl
Innerchr2:142742917..142797708hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3854792
hg1954792
hg1854792
hg1754792
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459685
Supporting Variants
SamplesNINDS_241
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)nssv536411
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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