A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460165



Internal ID15173544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240684477..240769258hg38UCSC Ensembl
Innerchr2:241623894..241708675hg19UCSC Ensembl
Innerchr2:241272567..241357348hg18UCSC Ensembl
Innerchr2:241343884..241428665hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3884782
hg1984782
hg1884782
hg1784782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536769
SamplesHGDP01255
Known GenesAQP12A, KIF1A
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)nsv460165
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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