A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111071



Internal ID19265953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51834012..51834086hg38UCSC Ensembl
Outerchr12:52227796..52227870hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv817n106
Supporting Variantsnssv3962275
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111071
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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