A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965045



Internal ID18879877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:919691..920446hg38UCSC Ensembl
Outerchr12:1028857..1029612hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129908
Supporting Variants
SamplesKWS2
Known GenesRAD52
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965045
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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