A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6425791



Internal ID21083344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142975701..144021300hg38UCSC Ensembl
chr8:144057118..145091981hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381045600
hg191034864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18228575
Samples
Known GenesBREA2, C8orf31, CCDC166, CDC42P3, EEF1D, EPPK1, FAM83H, FAM83H-AS1, GLI4, GPIHBP1, GRINA, GSDMD, LOC100133669, LY6E, LY6H, MAFA, MAPK15, MIR4664, MIR661, MIR6845, MIR937, MROH6, NAPRT1, NRBP2, PARP10, PLEC, PUF60, PYCRL, RHPN1, RHPN1-AS1, SCRIB, SPATC1, TIGD5, TOP1MT, TSTA3, ZC3H3, ZFP41, ZNF623, ZNF696, ZNF707
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6425791
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer