A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997266



Internal ID20564306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124302276..124308514hg38UCSC Ensembl
chr12:124786822..124793060hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386239
hg196239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478771
Supporting Variants
Samples
Known GenesFAM101A, ZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997266
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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