A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119461



Internal ID19256549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82968459..82968513hg38UCSC Ensembl
Outerchr17:80926335..80926389hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959904
SamplesKWS1
Known GenesB3GNTL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119461
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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