A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074130



Internal ID18972302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1092973..1093039hg38UCSC Ensembl
chr4:1086761..1086827hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765183
SamplesKWP1
Known GenesRNF212
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074130
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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