A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151738



Internal ID18851250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:128905954..128911455hg38UCSC Ensembl
Outerchr6:129227099..129232600hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998917
SamplesKWB1
Known GenesLAMA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151738
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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