A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536714



Internal ID15503843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215619859..215638829hg38UCSC Ensembl
Innerchr2:216484582..216503552hg19UCSC Ensembl
Innerchr2:216192827..216211797hg18UCSC Ensembl
Innerchr2:216310088..216329058hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3818971
hg1918971
hg1818971
hg1718971
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460094
Supporting Variants
Samples1780862437_A
Known GenesLINC00607
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)nssv536714
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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