A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146148



Internal ID19195578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42796882..42799326hg38UCSC Ensembl
Outerchr3:42838374..42840818hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382445
hg192445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999350
SamplesKWB1
Known GenesHIGD1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146148
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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