A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980366



Internal ID19243024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:105244285..105255141hg38UCSC Ensembl
Outerchr7:104884732..104895588hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3810857
hg1910857
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143189
Supporting Variants
SamplesKWS2
Known GenesSRPK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980366
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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