A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117258



Internal ID18922159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130745687..130751923hg38UCSC Ensembl
Outerchr2:131503260..131509496hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg386237
hg196237
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979450
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117258
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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