A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337004



Internal ID20994557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238133570..238143176hg38UCSC Ensembl
chr2:239042211..239051817hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389607
hg199607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084425
Samples
Known GenesKLHL30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337004
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