A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116611



Internal ID19264879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121736571..121741138hg38UCSC Ensembl
Outerchr1:121478369..121482936hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg384568
hg194568
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961439, nssv3993578
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116611
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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