A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950645



Internal ID17299519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7737588..7741387hg38UCSC Ensembl
Outerchr5:7737701..7741500hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997701
SamplesBILGI_BIOE
Known GenesADCY2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950645
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