A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144599



Internal ID343804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8419709..8420051hg38UCSC Ensembl
chr19:8484593..8484935hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721152
Samples
Known GenesMARCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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