A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549043



Internal ID15989766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205501708..205530573hg38UCSC Ensembl
Innerchr1:205470836..205499701hg19UCSC Ensembl
Innerchr1:203737459..203766324hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3828866
hg1928866
hg1828866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174039
SamplesHGDP00973
Known GenesCDK18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549043
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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