A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125926



Internal ID18927613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139951950..139952020hg38UCSC Ensembl
Outerchr7:139651749..139651819hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984130
SamplesKWS2
Known GenesTBXAS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125926
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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