A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141508



Internal ID19280453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6689467..6693467hg38UCSC Ensembl
Outerchr6:6689700..6693700hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993014
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141508
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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