A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15753112



Internal ID21384616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178239492..178239866hg38UCSC Ensembl
chr5:177666493..177666867hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4434575
Supporting Variants
SamplesBTQ016
Known GenesCOL23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15753112
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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