A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123217



Internal ID19284749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8969666..8982075hg38UCSC Ensembl
Outerchr19:9080342..9092751hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3812410
hg1912410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955030, nssv3972634
SamplesKWS2, KWS1
Known GenesMUC16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123217
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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