A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072593



Internal ID19324944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4050006..4050327hg38UCSC Ensembl
chr6:4050240..4050561hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771385
SamplesKWP1
Known GenesPRPF4B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072593
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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