A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462516



Internal ID15522581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170544029..170570634hg38UCSC Ensembl
Innerchr5:169971033..169997638hg19UCSC Ensembl
Innerchr5:169903611..169930216hg18UCSC Ensembl
Innerchr5:169903611..169930216hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3826606
hg1926606
hg1826606
hg1726606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538661
Samples1798860251_A
Known GenesKCNIP1
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)nsv462516
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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