A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460064



Internal ID15520129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211181194..211236973hg38UCSC Ensembl
Innerchr2:212045919..212101698hg19UCSC Ensembl
Innerchr2:211754164..211809943hg18UCSC Ensembl
Innerchr2:211871425..211927204hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3855780
hg1955780
hg1855780
hg1755780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536689
SamplesHGDP00060
Known Genes
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)nsv460064
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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