A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6408594



Internal ID21066147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140515601..140836000hg38UCSC Ensembl
chr5:139895186..140215585hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38320400
hg19320400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215084
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3, APBB3, CD14, DND1, EIF4EBP3, HARS, HARS2, IK, MIR3655, MIR6831, NDUFA2, PCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, SLC35A4, SRA1, TMCO6, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, ZMAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6408594
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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