A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146007



Internal ID19198058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:126890607..126896708hg38UCSC Ensembl
Outerchr5:126226299..126232400hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386102
hg196102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997370
SamplesKWB1
Known GenesMARCH3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146007
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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