A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462000



Internal ID15522065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18985993..19237596hg38UCSC Ensembl
Innerchr5:18986102..19237705hg19UCSC Ensembl
Innerchr5:19021859..19273462hg18UCSC Ensembl
Innerchr5:19021859..19273462hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38251604
hg19251604
hg18251604
hg17251604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538301
SamplesNINDS_91
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)nsv462000
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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