A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135559



Internal ID19252172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205980474..205980590hg38UCSC Ensembl
Outerchr2:206845198..206845314hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2133n106
Supporting Variantsnssv3989125
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135559
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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