A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15750626



Internal ID21388101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757640..765617hg38UCSC Ensembl
chr12:866806..874783hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387978
hg197978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431837
Supporting Variants
SamplesNB07
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15750626
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