A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117435



Internal ID18932851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:27892547..27892672hg38UCSC Ensembl
Outerchr6:27860325..27860450hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980010
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117435
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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