A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997093



Internal ID17290045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:628921..634920hg38UCSC Ensembl
Outerchr1:564301..570300hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949752
Supporting Variants
SamplesBILGI_BIOE
Known GenesMIR6723
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997093
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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