A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111187



Internal ID19258872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:84598111..84598190hg38UCSC Ensembl
Outerchr2:84825235..84825314hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962444
SamplesKWS1
Known GenesDNAH6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111187
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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