A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460126



Internal ID15173505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232347151..232450598hg38UCSC Ensembl
Innerchr2:233211861..233315308hg19UCSC Ensembl
Innerchr2:232920105..233023552hg18UCSC Ensembl
Innerchr2:233037366..233140813hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38103448
hg19103448
hg18103448
hg17103448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv494n27
Supporting Variantsnssv536738
SamplesHGDP01227
Known GenesALPP, ALPPL2, ECEL1P2
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)nsv460126
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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