A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560251



Internal ID22429047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97482678..97482678hg38UCSC Ensembl
chr12:97876456..97876456hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365765, nssv14365764, nssv14365763
SamplesHG00731, HG00732, HG00733
Known GenesRMST
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560251
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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