A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537170



Internal ID15509815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16013965..16054087hg38UCSC Ensembl
Innerchr1:16340460..16380582hg19UCSC Ensembl
Innerchr1:16213047..16253169hg18UCSC Ensembl
Innerchr1:16085766..16125888hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3840123
hg1940123
hg1840123
hg1740123
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460629
Supporting Variants
SamplesHGDP01090
Known GenesCLCNKA, CLCNKB, 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)nssv537170
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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