A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061744



Internal ID20628784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56742801..56743300hg38UCSC Ensembl
chr1:57208474..57208973hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323887
Supporting Variants
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061744
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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