A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459296



Internal ID15172675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130185940..130344965hg38UCSC Ensembl
Innerchr2:130943513..131102538hg19UCSC Ensembl
Innerchr2:130659983..130819008hg18UCSC Ensembl
Innerchr2:130659743..130818768hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38159026
hg19159026
hg18159026
hg17159026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475n27
Supporting Variantsnssv536073
SamplesHGDP00716
Known GenesCCDC115, IMP4, MZT2B, TUBA3E
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)nsv459296
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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