A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153256



Internal ID19198973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53923045..53926846hg38UCSC Ensembl
Outerchr19:54426299..54430100hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001174
SamplesKWB1
Known GenesCACNG7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153256
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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