A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461151



Internal ID15174530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1165892..1243052hg38UCSC Ensembl
Innerchr4:1159680..1236840hg19UCSC Ensembl
Innerchr4:1149680..1226840hg18UCSC Ensembl
Innerchr4:1149510..1226670hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3877161
hg1977161
hg1877161
hg1777161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv636n27
Supporting Variantsnssv537587
SamplesHGDP00788
Known GenesCTBP1, CTBP1-AS, LOC100130872, SPON2
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)nsv461151
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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