A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763508



Internal ID19307603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180980372..180981273hg38UCSC Ensembl
chr2:181845099..181846000hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072467
Supporting Variants
SamplesKWP1
Known GenesUBE2E3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763508
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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