A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121978



Internal ID19286850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33753295..33754195hg38UCSC Ensembl
Outerchr19:34244200..34245100hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981473, nssv3967241
SamplesKWS2, KWS1
Known GenesCHST8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121978
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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