A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140479



Internal ID18935924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52683479..52978656hg38UCSC Ensembl
Outerchr19:53186732..53481909hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38295178
hg19295178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979561
SamplesKWS1
Known GenesZNF28, ZNF320, ZNF321P, ZNF468, ZNF600, ZNF611, ZNF702P, ZNF816, ZNF816-ZNF321P, ZNF83
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140479
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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