A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455579



Internal ID22513456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27610042..27624627hg38UCSC Ensembl
chr12:27762975..27777560hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3814586
hg1914586
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5861632
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455579
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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