A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318478



Internal ID20851570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180006276..180725862hg38UCSC Ensembl
chr1:179975411..180694998hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38719587
hg19719588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201715
Samples
Known GenesACBD6, CEP350, FLJ23867, LHX4, LOC100527964, MIR3121, QSOX1, XPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318478
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