A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130387



Internal ID19279136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:31242736..31242856hg38UCSC Ensembl
Outerchr19:31733642..31733762hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1767n106
Supporting Variantsnssv3966457, nssv3989093
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130387
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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