A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460717



Internal ID15174096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19910238..19924306hg38UCSC Ensembl
Innerchr1:20236731..20250799hg19UCSC Ensembl
Innerchr1:20109318..20123386hg18UCSC Ensembl
Innerchr1:19982037..19996105hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3814069
hg1914069
hg1814069
hg1714069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537249
SamplesNINDS_168
Known GenesOTUD3, PLA2G2E
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)nsv460717
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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