A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460618



Internal ID15520683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16013965..16041908hg38UCSC Ensembl
Innerchr1:16340460..16368403hg19UCSC Ensembl
Innerchr1:16213047..16240990hg18UCSC Ensembl
Innerchr1:16085766..16113709hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3827944
hg1927944
hg1827944
hg1727944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12n27
Supporting Variantsnssv537159
SamplesHGDP00971
Known GenesCLCNKA, HSPB7
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)nsv460618
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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