A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2792496



Internal ID21237834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7199808..7199901hg38UCSC Ensembl
chr12:7352404..7352497hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13711467
Samples
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2792496
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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