A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561799



Internal ID22430567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234325975..234325975hg38UCSC Ensembl
chr1:234461721..234461721hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312714, nssv14312713, nssv14312712
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561799
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer