A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174001



Internal ID22332592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112119..220112428hg38UCSC Ensembl
chr1:220285461..220285770hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv565n152
Supporting Variantsnssv14307776, nssv14307775, nssv14307777, nssv14307774
SamplesNA19238, NA19239, HG00731, NA19240
Known GenesIARS2, RNU5F-1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3174001
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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