A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688506



Internal ID112172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30689089..30689140hg38UCSC Ensembl
chr12:30842023..30842074hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506487
Supporting Variants
Samples
Known GenesIPO8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688506
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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