A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462200



Internal ID15175579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60840158..60971048hg38UCSC Ensembl
Innerchr5:60135985..60266875hg19UCSC Ensembl
Innerchr5:60171742..60302632hg18UCSC Ensembl
Innerchr5:60171742..60302632hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38130891
hg19130891
hg18130891
hg17130891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538420
SamplesHGDP00565
Known GenesELOVL7, ERCC8, NDUFAF2
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)nsv462200
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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