A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524171



Internal ID22393600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51203212..51203472hg38UCSC Ensembl
chr7:51270909..51271169hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14334614
SamplesNA19239
Known GenesCOBL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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