A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144884



Internal ID18917108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54781348..54818345hg38UCSC Ensembl
Outerchr19:55292800..55329800hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3836998
hg1937001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1818n106
Supporting Variantsnssv3981485
SamplesKWS1
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144884
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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