A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458535



Internal ID15171914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32716739..32824007hg38UCSC Ensembl
Innerchr19:33207645..33314913hg19UCSC Ensembl
Innerchr19:37899485..38006753hg18UCSC Ensembl
Innerchr19:37899485..38006753hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38107269
hg19107269
hg18107269
hg17107269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535451
Samples1780854128_A
Known GenesTDRD12
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)nsv458535
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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