A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18250315



Internal ID20817355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229174803..232234539hg38UCSC Ensembl
chr1:229310550..232370285hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg383059737
hg193059736
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6549900
Supporting Variants
Samples
Known GenesABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, CCSAP, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, GALNT2, GNPAT, LINC00582, LOC149373, MIR1182, NUP133, PGBD5, RAB4A, SNRPD2P2, SPHAR, SPRTN, TAF5L, TRIM67, TSNAX, TSNAX-DISC1, TTC13, URB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18250315
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00096


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