A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462591



Internal ID8489638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181195615..181263936hg38UCSC Ensembl
Innerchr5:180622615..180690937hg19UCSC Ensembl
Innerchr5:180555221..180623543hg18UCSC Ensembl
Innerchr5:180555221..180623543hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3868322
hg1968323
hg1868323
hg1768323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538717
Samples1780854339_A
Known GenesGNB2L1, MIR4638, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1, TRIM7
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)nsv462591
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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