A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462548



Internal ID15522613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176132836..176303804hg38UCSC Ensembl
Innerchr5:175559839..175730807hg19UCSC Ensembl
Innerchr5:175492445..175663413hg18UCSC Ensembl
Innerchr5:175492445..175663413hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38170969
hg19170969
hg18170969
hg17170969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538685
Samples1780854599_A
Known GenesLOC643201, SIMC1
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)nsv462548
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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