A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463403



Internal ID22521289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95673729..95684320hg38UCSC Ensembl
chr12:96067505..96078096hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3810592
hg1910592
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854961
Supporting Variants
Samples
Known GenesNTN4, PGAM1P5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463403
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