A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961049



Internal ID19222793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7399430..7399497hg38UCSC Ensembl
Outerchr12:7552026..7552093hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116690
Supporting Variants
SamplesKWS1
Known GenesCD163L1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961049
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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