A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545444



Internal ID15986167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12687857..12727665hg38UCSC Ensembl
Innerchr1:12747871..12787632hg19UCSC Ensembl
Innerchr1:12670458..12710219hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3839809
hg1939762
hg1839762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv710022
Samples
Known GenesAADACL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545444
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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