A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459163



Internal ID15172542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121573899..122358430hg38UCSC Ensembl
Innerchr2:122331475..123116006hg19UCSC Ensembl
Innerchr2:122047945..122832476hg18UCSC Ensembl
Innerchr2:122047705..122832236hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38784532
hg19784532
hg18784532
hg17784532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535983
Samples1780862075_A
Known GenesCLASP1, NIFK, NIFK-AS1, TSN
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)nsv459163
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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