A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6407401



Internal ID21064954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140339301..140944600hg38UCSC Ensembl
chr5:139718886..140324185hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38605300
hg19605300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215082
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3, APBB3, CD14, DND1, EIF4EBP3, HARS, HARS2, HBEGF, IK, MIR3655, MIR6831, NDUFA2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, SLC35A4, SLC4A9, SRA1, TMCO6, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, ZMAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6407401
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