A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947442



Internal ID18247604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108774461..108781499hg38UCSC Ensembl
Innerchr1:109317083..109324121hg19UCSC Ensembl
Innerchr1:109118606..109125644hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg387039
hg197039
hg187039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761622
SamplesHGDP00778
Known GenesSTXBP3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947442
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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