A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431837



Internal ID21393839
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 StatusM
Merged Variants
Supporting Variantsnssv15748961, nssv15750626
SamplesNB08, NB07
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431837
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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