A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458973



Internal ID15172352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110131531..110161744hg38UCSC Ensembl
Innerchr2:110889108..110919321hg19UCSC Ensembl
Innerchr2:110246397..110276610hg18UCSC Ensembl
Innerchr2:110246483..110276696hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3830214
hg1930214
hg1830214
hg1730214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535822
SamplesHGDP00116
Known GenesNPHP1
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)nsv458973
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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