A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152474



Internal ID18853529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7036188..7053489hg38UCSC Ensembl
Outerchr19:7036199..7053500hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3817302
hg1917302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999652
SamplesKWB1
Known GenesMBD3L2, MBD3L4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152474
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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