A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998250



Internal ID17291202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99482247..99490046hg38UCSC Ensembl
Outerchr13:100134501..100142300hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951910
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998250
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer