A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330085



Internal ID20863239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45495826..45502742hg38UCSC Ensembl
chr1:45961498..45968414hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg386917
hg196917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061091
Samples
Known GenesCCDC163P, MMACHC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330085
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