A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458534



Internal ID15171913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:30452770..30482476hg38UCSC Ensembl
Innerchr19:30943677..30973383hg19UCSC Ensembl
Innerchr19:35635517..35665223hg18UCSC Ensembl
Innerchr19:35635517..35665223hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3829707
hg1929707
hg1829707
hg1729707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535450
Samples1780854128_A
Known GenesZNF536
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)nsv458534
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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