A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462422



Internal ID15522487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118404850..118685011hg38UCSC Ensembl
Innerchr5:117740545..118020706hg19UCSC Ensembl
Innerchr5:117768444..118048605hg18UCSC Ensembl
Innerchr5:117768444..118048605hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38280162
hg19280162
hg18280162
hg17280162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538591
SamplesNINDS_2
Known GenesLOC101927280, LOC102467225
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)nsv462422
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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