A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458767



Internal ID15518832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53369175..53445133hg38UCSC Ensembl
Innerchr19:53872428..53948386hg19UCSC Ensembl
Innerchr19:58564240..58640198hg18UCSC Ensembl
Innerchr19:58564240..58640198hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3875959
hg1975959
hg1875959
hg1775959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535669
Samples1780846029_A
Known GenesTPM3P9, ZNF525, ZNF761, ZNF765
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)nsv458767
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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