A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129975



Internal ID19270088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51653394..51657408hg38UCSC Ensembl
Outerchr19:52156647..52160661hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg384015
hg194015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1804n106
Supporting Variantsnssv3965116
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129975
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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