A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318148



Internal ID20851239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41917201..41920900hg38UCSC Ensembl
chr1:42382872..42386571hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203123
Samples
Known GenesHIVEP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318148
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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