A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124759



Internal ID18926980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74727761..74728961hg38UCSC Ensembl
Outerchr17:72723900..72725100hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976813
SamplesKWS2
Known GenesRAB37
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124759
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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