A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460430



Internal ID238414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7984041..7986775hg38UCSC Ensembl
chr6:7984274..7987008hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980014
Samples
Known GenesBLOC1S5-TXNDC5, PIP5K1P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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