A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123022



Internal ID18919859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25002962..25003033hg38UCSC Ensembl
Outerchr16:25014283..25014354hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971622
SamplesKWS2
Known GenesARHGAP17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123022
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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