A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148804



Internal ID19201456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:256499..382500hg38UCSC Ensembl
Outerchr6:256499..382500hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38126002
hg19126002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997592
SamplesKWB1
Known GenesDUSP22
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148804
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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