A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072473



Internal ID19326446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191761673..191763174hg38UCSC Ensembl
chr2:192626399..192627900hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763721
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072473
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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