A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074133



Internal ID18971971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2058672..2060873hg38UCSC Ensembl
chr4:2060399..2062600hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771275
SamplesKWP1
Known GenesNAT8L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074133
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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