A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762606



Internal ID17488154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111534504..111538159hg38UCSC Ensembl
Innerchr1:112077126..112080781hg19UCSC Ensembl
Innerchr1:111878649..111882304hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383656
hg193656
hg183656
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947443
Supporting Variants
SamplesHGDP00998
Known GenesADORA3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762606
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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