A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459031



Internal ID15172410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58846572..58904078hg38UCSC Ensembl
Innerchr20:57421627..57479133hg19UCSC Ensembl
Innerchr20:56855022..56912528hg18UCSC Ensembl
Innerchr20:56855022..56912528hg17UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3857507
hg1957507
hg1857507
hg1757507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535872
Samples1780862101_A
Known GenesGNAS, GNAS-AS1
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)nsv459031
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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