A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466737



Internal ID15526802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12058736..12117648hg38UCSC Ensembl
Innerchr10:12100735..12159647hg19UCSC Ensembl
Innerchr10:12140741..12199653hg18UCSC Ensembl
Innerchr10:12140741..12199653hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3858913
hg1958913
hg1858913
hg1758913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv67n27
Supporting Variantsnssv542204
SamplesHGDP00908
Known GenesDHTKD1
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)nsv466737
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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