A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116690



Internal ID19261265
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 StatusM
Merged Variants
Supporting Variantsnssv3961049, nssv3993636
SamplesKWS2, KWS1
Known GenesCD163L1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116690
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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