A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461216



Internal ID15174595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8152807..8274684hg38UCSC Ensembl
Innerchr4:8154534..8276411hg19UCSC Ensembl
Innerchr4:8205434..8327311hg18UCSC Ensembl
Innerchr4:8272605..8394482hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38121878
hg19121878
hg18121878
hg17121878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537632
SamplesNINDS_111
Known GenesABLIM2, HTRA3, SH3TC1
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)nsv461216
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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