A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947419



Internal ID18594267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27817901..27824481hg38UCSC Ensembl
Innerchr1:28144412..28150992hg19UCSC Ensembl
Innerchr1:28016999..28023579hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg386581
hg196581
hg186581
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2757611
SamplesHGDP00998
Known GenesSTX12
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947419
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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