A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993062



Internal ID18896611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103380653..103383753hg38UCSC Ensembl
Outerchr7:103021100..103024200hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141555
Supporting Variants
SamplesKWS2
Known GenesSLC26A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993062
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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