A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144895



Internal ID344100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7107790..7113948hg38UCSC Ensembl
chr18:7107789..7113947hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg386159
hg196159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716128
Samples
Known GenesLAMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144895
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