A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947415



Internal ID18594263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19150679..19153385hg38UCSC Ensembl
Innerchr1:19477173..19479879hg19UCSC Ensembl
Innerchr1:19349760..19352466hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382707
hg192707
hg182707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761244
SamplesHGDP00665
Known GenesUBR4
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947415
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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