A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112317



Internal ID19281442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21973000..22180970hg38UCSC Ensembl
Outerchr19:22155802..22363772hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38207971
hg19207971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966393
SamplesKWS2
Known GenesZNF208, ZNF257, ZNF676
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112317
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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