A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968794



Internal ID18890726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69600599..69600658hg38UCSC Ensembl
Outerchr12:69994379..69994438hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113492
Supporting Variants
SamplesKWS2
Known GenesCCT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968794
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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