A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187403



Internal ID20754443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95891201..95988000hg38UCSC Ensembl
chr12:96284979..96381778hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3896800
hg1996800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471628
Supporting Variants
Samples
Known GenesAMDHD1, CCDC38, HAL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187403
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00064


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