A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525509



Internal ID22394887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11538609..11538661hg38UCSC Ensembl
chr2:11678735..11678787hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4484n152
Supporting Variantsnssv14287672, nssv14287673, nssv14287671, nssv14287674, nssv14287675
SamplesHG00512, NA19239, HG00731, HG00733, HG00514
Known GenesGREB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525509
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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