A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215084



Internal ID20782124
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 StatusS
Merged Variantsnsv6408594
Supporting Variants
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)nssv18215084
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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