A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458733



Internal ID15172112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51722514..51856730hg38UCSC Ensembl
Innerchr19:52225767..52359983hg19UCSC Ensembl
Innerchr19:56917579..57051795hg18UCSC Ensembl
Innerchr19:56917579..57051795hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38134217
hg19134217
hg18134217
hg17134217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535642
SamplesHGDP00936
Known GenesFPR1, FPR2, FPR3, HAS1, ZNF577
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)nsv458733
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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