A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988373



Internal ID19219767
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 StatusS
Merged Variantsnsv1133397
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988373
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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