A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144310



Internal ID343514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21188537..21608498hg38UCSC Ensembl
chr16:21199858..21619819hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38419962
hg19419962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704770
Samples
Known GenesANKS4B, CRYM, CRYM-AS1, LOC100190986, LOC100271836, METTL9, NPIPB3, SLC7A5P2, SNX29P1, ZP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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