A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150547



Internal ID19200539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57319184..57319265hg38UCSC Ensembl
Outerchr19:57830552..57830633hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996024
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150547
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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