A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953956



Internal ID16956143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7024790..7055589hg38UCSC Ensembl
Outerchr19:7024801..7055600hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3830800
hg1930800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998935
SamplesBILGI_BIOE
Known GenesMBD3L2, MBD3L4, MBD3L5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953956
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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