A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336483



Internal ID20994036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73620291..73680493hg38UCSC Ensembl
chr2:73847418..73907620hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3860203
hg1960203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3928n223
Supporting Variantsnssv18089733
Samples
Known GenesALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336483
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