A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949778



Internal ID17298651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6560274..6626273hg38UCSC Ensembl
Outerchr4:6562001..6628000hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3866000
hg1966000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996650
SamplesBILGI_BIOE
Known GenesMAN2B2, PPP2R2C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949778
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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