A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112711



Internal ID18919876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48908738..48909238hg38UCSC Ensembl
Outerchr17:46986100..46986600hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967198
SamplesKWS2
Known GenesUBE2Z
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112711
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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