A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143187



Internal ID18917865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:85019065..85019122hg38UCSC Ensembl
Outerchr7:84648381..84648438hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980364
SamplesKWS2
Known GenesSEMA3D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143187
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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