A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315992



Internal ID20849068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75360701..75363000hg38UCSC Ensembl
chr1:75826386..75828685hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18064025
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315992
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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