A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994555



Internal ID18871438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57954339..57955639hg38UCSC Ensembl
Outerchr17:56031700..56033000hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143859
Supporting Variants
SamplesKWS1
Known GenesCUEDC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994555
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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