A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458710



Internal ID15172089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43835808..43906694hg38UCSC Ensembl
Innerchr19:44339960..44410846hg19UCSC Ensembl
Innerchr19:49031800..49102686hg18UCSC Ensembl
Innerchr19:49031800..49102686hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3870887
hg1970887
hg1870887
hg1770887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535622
SamplesNINDS_222
Known GenesLOC100505715, ZNF283, ZNF404
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)nsv458710
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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