A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462884



Internal ID15522949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104770001..104907399hg38UCSC Ensembl
Innerchr1:105312623..105450021hg19UCSC Ensembl
Innerchr1:105114146..105251544hg18UCSC Ensembl
Innerchr1:105024644..105162042hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38137399
hg19137399
hg18137399
hg17137399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538954
SamplesNINDS_227
Known GenesMIR548H3
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)nsv462884
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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