A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116721



Internal ID18920287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19827767..19832915hg38UCSC Ensembl
Outerchr13:20401907..20407055hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg385149
hg195149
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979282
SamplesKWS2
Known GenesZMYM5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116721
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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