A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535318



Internal ID15161466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19752205..19838400hg38UCSC Ensembl
Innerchr19:19863014..19949209hg19UCSC Ensembl
Innerchr19:19724014..19810209hg18UCSC Ensembl
Innerchr19:19724014..19810209hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3886196
hg1986196
hg1886196
hg1786196
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458375
Supporting Variants
SamplesHGDP00776
Known GenesLINC00663, ZNF506
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)nssv535318
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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