A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6435049



Internal ID21092602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143430801..143727600hg38UCSC Ensembl
chr8:144512971..144809770hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38296800
hg19296800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18229076
Samples
Known GenesBREA2, CCDC166, EEF1D, FAM83H, GSDMD, MAPK15, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3, ZC3H3, ZNF623, ZNF707
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6435049
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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