A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17609930



Internal ID21801977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95946567..95949176hg38UCSC Ensembl
chr12:96340345..96342954hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6040116
Supporting Variants
Samples
Known GenesAMDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17609930
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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