A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458717



Internal ID15172096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48243424..48258167hg38UCSC Ensembl
Innerchr19:48746681..48761424hg19UCSC Ensembl
Innerchr19:53438493..53453236hg18UCSC Ensembl
Innerchr19:53438493..53453236hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3814744
hg1914744
hg1814744
hg1714744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535628
SamplesHGDP00734
Known GenesCARD8, LOC100505812
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)nsv458717
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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