A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109378



Internal ID18936175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37211533..37211599hg38UCSC Ensembl
Outerchr20:35839936..35840002hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956065
SamplesKWS1
Known GenesRPN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109378
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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