A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947444



Internal ID18247606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111606348..111626863hg38UCSC Ensembl
Innerchr1:112148970..112169485hg19UCSC Ensembl
Innerchr1:111950493..111971008hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3820516
hg1920516
hg1820516
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765917
SamplesHGDP00998
Known GenesLOC100129269, RAP1A
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947444
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