A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221277



Internal ID20788317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49838941..56572992hg38UCSC Ensembl
chr14:50305659..57039710hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg386734052
hg196734052
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6578746
Supporting Variants
Samples
Known GenesABHD12B, ARF6, ATG14, ATL1, ATP5S, BMP4, C14orf166, C14orf182, C14orf183, CDKL1, CDKN3, CGRRF1, CNIH1, DDHD1, DLGAP5, ERO1L, FBXO34, FERMT2, FRMD6, FRMD6-AS1, FRMD6-AS2, GCH1, GMFB, GNG2, GNPNAT1, GPR137C, KTN1, KTN1-AS1, L2HGDH, LGALS3, LINC00520, LINC00640, LOC100506499, MAP4K5, MAPK1IP1L, MIR4308, MIR5580, MIR6076, NEMF, NID2, NIN, PELI2, PSMC6, PTGDR, PTGER2, PYGL, RPL13AP3, SAMD4A, SAV1, SOCS4, SOS2, STYX, TBPL2, TMX1, TRIM9, TXNDC16, VCPKMT, WDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221277
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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