A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997761



Internal ID17290713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63076274..63082073hg38UCSC Ensembl
Outerchr5:62372101..62377900hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950072
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997761
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