A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000480



Internal ID19191074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:97362787..97369088hg38UCSC Ensembl
Outerchr7:96992099..96998400hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg386302
hg196302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148442
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000480
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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