A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116823



Internal ID19279990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206607892..206607959hg38UCSC Ensembl
Outerchr2:207472616..207472683hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955611
SamplesKWS1
Known GenesADAM23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116823
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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