A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128785



Internal ID18908518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54832845..54839945hg38UCSC Ensembl
Outerchr19:55344300..55351400hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960700
SamplesKWS1
Known GenesKIR2DS4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128785
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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