A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462460



Internal ID15522525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139553566..139765464hg38UCSC Ensembl
Innerchr5:138933151..139145049hg19UCSC Ensembl
Innerchr5:138913335..139125233hg18UCSC Ensembl
Innerchr5:138913335..139125233hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38211899
hg19211899
hg18211899
hg17211899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538616
SamplesNINDS_271
Known GenesCXXC5, LOC101929696, UBE2D2
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)nsv462460
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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