A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124777



Internal ID19265977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8865424..8869724hg38UCSC Ensembl
Outerchr19:8976100..8980400hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976830
SamplesKWS2
Known GenesMUC16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124777
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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