A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978196



Internal ID18895113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28022222..28026422hg38UCSC Ensembl
Outerchr6:27990000..27994200hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg384201
hg194201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139860
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978196
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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