A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537192



Internal ID15509093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16021917..16050336hg38UCSC Ensembl
Innerchr1:16348412..16376831hg19UCSC Ensembl
Innerchr1:16220999..16249418hg18UCSC Ensembl
Innerchr1:16093718..16122137hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3828420
hg1928420
hg1828420
hg1728420
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460651
Supporting Variants
SamplesHGDP00941
Known GenesCLCNKA, CLCNKB
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)nssv537192
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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