A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801869



Internal ID16095825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247307..106248392hg38UCSC Ensembl
Innerchr12:106641085..106642170hg19UCSC Ensembl
Innerchr12:105165215..105166300hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381086
hg191086
hg181086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560069
Supporting Variants
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801869
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer