A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6594267



Internal ID20967338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54883431..63921497hg38UCSC Ensembl
chr14:55350149..64388215hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg389038067
hg199038067
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18237782
Samples
Known GenesACTR10, AP5M1, ARID4A, ATG14, C14orf105, C14orf37, C14orf39, CCDC175, DAAM1, DACT1, DHRS7, DLGAP5, EXOC5, FBXO34, FLJ22447, FLJ31306, GCH1, GPHB5, GPR135, HIF1A, HIF1A-AS1, HIF1A-AS2, JKAMP, KCNH5, KIAA0586, KTN1, KTN1-AS1, L3HYPDH, LGALS3, LINC00520, LINC00643, LINC00644, LRRC9, MAPK1IP1L, MNAT1, NAA30, OTX2, OTX2-AS1, PCNXL4, PELI2, PPM1A, PPP2R5E, PRKCH, PSMA3, RHOJ, RPL13AP3, RTN1, SGPP1, SIX1, SIX4, SIX6, SLC35F4, SLC38A6, SNAPC1, SOCS4, SYNE2, SYT16, TBPL2, TIMM9, TMEM260, TMEM30B, TOMM20L, TRMT5, WDHD1, WDR89
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6594267
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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