A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125912



Internal ID19284625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:67889054..67889627hg38UCSC Ensembl
Outerchr7:67354041..67354614hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984116
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125912
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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