A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133397



Internal ID19281048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2491120..2491228hg38UCSC Ensembl
Outerchr7:2530754..2530862hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988373
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133397
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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