A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947417



Internal ID18594265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25754993..25760641hg38UCSC Ensembl
Innerchr1:26081484..26087132hg19UCSC Ensembl
Innerchr1:25954071..25959719hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg385649
hg195649
hg185649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2759055
SamplesHGDP00998
Known GenesMAN1C1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947417
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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