A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461283



Internal ID15174662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6048317..6124032hg38UCSC Ensembl
Innerchr1:6108377..6184092hg19UCSC Ensembl
Innerchr1:6030964..6106679hg18UCSC Ensembl
Innerchr1:6042643..6118358hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3875716
hg1975716
hg1875716
hg1775716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537694
SamplesHGDP00491
Known GenesCHD5, KCNAB2
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)nsv461283
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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