A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072530



Internal ID19316414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32481196..32484197hg38UCSC Ensembl
chr20:31068999..31072000hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765522
SamplesKWP1
Known GenesC20orf112
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072530
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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