A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118767



Internal ID18926550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67993284..67994084hg38UCSC Ensembl
Outerchr17:65989400..65990200hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981077
SamplesKWS1
Known GenesC17orf58
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118767
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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