A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771753



Internal ID19307780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121257133..121275438hg38UCSC Ensembl
chr1:120747899..120772100hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3818306
hg1924202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075372
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771753
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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