A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947452



Internal ID18594300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175975834..175978684hg38UCSC Ensembl
Innerchr1:175944970..175947820hg19UCSC Ensembl
Innerchr1:174211593..174214443hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg382851
hg192851
hg182851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2759749
SamplesHGDP00778
Known GenesRFWD2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947452
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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