A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999389



Internal ID19189205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103380752..103381953hg38UCSC Ensembl
Outerchr7:103021199..103022400hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146187
Supporting Variants
SamplesKWB1
Known GenesSLC26A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999389
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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