A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318468



Internal ID20851560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182934276..182934821hg38UCSC Ensembl
chr1:182903411..182903956hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054384
Samples
Known GenesSHCBP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318468
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