A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132485



Internal ID20699525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62319801..62320800hg38UCSC Ensembl
chr5:61615628..61616627hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404243
Supporting Variants
Samples
Known GenesKIF2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132485
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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