A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549973



Internal ID15990696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12501130..12513442hg38UCSC Ensembl
Innerchr10:12543129..12555441hg19UCSC Ensembl
Innerchr10:12583135..12595447hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3812313
hg1912313
hg1812313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174123
SamplesHGDP01336
Known GenesCAMK1D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549973
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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