A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461567



Internal ID15174946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85752735..85755954hg38UCSC Ensembl
Innerchr4:86673888..86677107hg19UCSC Ensembl
Innerchr4:86892912..86896131hg18UCSC Ensembl
Innerchr4:87031067..87034286hg17UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg383220
hg193220
hg183220
hg173220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537942
Samples1780862066_A
Known GenesARHGAP24
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)nsv461567
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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