A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6562823



Internal ID20935894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140515380..140897647hg38UCSC Ensembl
chr5:139894965..140277232hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38382268
hg19382268
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18267492
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3, APBB3, CD14, DND1, EIF4EBP3, HARS, HARS2, IK, MIR3655, MIR6831, NDUFA2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, SLC35A4, SRA1, TMCO6, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, ZMAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6562823
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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