A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458355



Internal ID15171734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:10061840..10102478hg38UCSC Ensembl
Innerchr19:10172516..10213154hg19UCSC Ensembl
Innerchr19:10033516..10074154hg18UCSC Ensembl
Innerchr19:10033516..10074154hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3840639
hg1940639
hg1840639
hg1740639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535298
SamplesNINDS_165
Known GenesANGPTL6, C19orf66, C3P1
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)nsv458355
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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