A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201437



Internal ID20768477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50952501..50981500hg38UCSC Ensembl
chr1:51418173..51447172hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3829000
hg1929000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325578
Supporting Variants
Samples
Known GenesCDKN2C, FAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201437
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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