A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947416



Internal ID18594264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24658051..24664478hg38UCSC Ensembl
Innerchr1:24984542..24990969hg19UCSC Ensembl
Innerchr1:24857129..24863556hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386428
hg196428
hg186428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2766073
SamplesHGDP00998
Known GenesSRRM1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947416
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