A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133382



Internal ID19265038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117525279..117529301hg38UCSC Ensembl
Outerchr6:117846442..117850464hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg384023
hg194023
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988354
SamplesKWS1
Known GenesDCBLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133382
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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