A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460155



Internal ID15520220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240322240..240352328hg38UCSC Ensembl
Innerchr2:241261657..241291745hg19UCSC Ensembl
Innerchr2:240910330..240940418hg18UCSC Ensembl
Innerchr2:240981647..241011735hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3830089
hg1930089
hg1830089
hg1730089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536762
Samples1780862229_A
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)nsv460155
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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