A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117452



Internal ID19285623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166416035..166416107hg38UCSC Ensembl
Outerchr6:166829523..166829595hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980034
SamplesKWS2
Known GenesRPS6KA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117452
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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