A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334005



Internal ID20867186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78854451..79096712hg38UCSC Ensembl
chr1:79320136..79562397hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38242262
hg19242262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18063785
Samples
Known GenesELTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334005
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