A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462254



Internal ID15175633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94621232..94721120hg38UCSC Ensembl
Innerchr5:93956937..94056825hg19UCSC Ensembl
Innerchr5:93982693..94082581hg18UCSC Ensembl
Innerchr5:93982693..94082581hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3899889
hg1999889
hg1899889
hg1799889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538465
SamplesNINDS_145
Known GenesANKRD32, MCTP1
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)nsv462254
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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