A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768175



Internal ID19307291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58728527..58731628hg38UCSC Ensembl
chr1:59194199..59197300hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076322
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768175
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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