A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001991



Internal ID18842847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100950765..100962777hg38UCSC Ensembl
Outerchr7:100548399..100554600hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3812013
hg196202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151058
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001991
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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