A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762533



Internal ID19305389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:348037..351938hg38UCSC Ensembl
chr1:467399..471300hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076309
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762533
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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