A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140864



Internal ID340058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70793950..70979953hg38UCSC Ensembl
chr5:70089777..70275780hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38186004
hg19186004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966811
Samples
Known GenesNAIP, SERF1A, SERF1B, SMN1, SMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140864
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