A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139680



Internal ID18931361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76291519..76293919hg38UCSC Ensembl
Outerchr17:74287600..74290000hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977265
SamplesKWS2
Known GenesQRICH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139680
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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