A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955272



Internal ID17304145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159402190..159585389hg38UCSC Ensembl
Outerchr2:160258701..160441900hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38183200
hg19183200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003051
SamplesBILGI_BIOE
Known GenesBAZ2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955272
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