A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972650



Internal ID22747585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229174728..232234598hg38UCSC Ensembl
chr1:229310475..232370344hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg383059871
hg193059870
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121n209
Supporting Variantsnssv17365880
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
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972650
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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