A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462557



Internal ID15175936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176741506..176866702hg38UCSC Ensembl
Innerchr5:176168507..176293703hg19UCSC Ensembl
Innerchr5:176101113..176226309hg18UCSC Ensembl
Innerchr5:176101113..176226309hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38125197
hg19125197
hg18125197
hg17125197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538692
SamplesNINDS_70
Known GenesLOC102577424, UNC5A
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)nsv462557
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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