A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979261



Internal ID19243821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51834012..51834083hg38UCSC Ensembl
Outerchr12:52227796..52227867hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116699
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979261
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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