A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535291



Internal ID15510350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7231633..7261430hg38UCSC Ensembl
Innerchr19:7231644..7261441hg19UCSC Ensembl
Innerchr19:7182644..7212441hg18UCSC Ensembl
Innerchr19:7182644..7212441hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3829798
hg1929798
hg1829798
hg1729798
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458348
Supporting Variants
SamplesHGDP01234
Known GenesINSR
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)nssv535291
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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