A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351296



Internal ID22576965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229416331..231831980hg38UCSC Ensembl
chr1:229552078..231967726hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382415650
hg192415649
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971633
Supporting Variants
Samples
Known GenesABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, GALNT2, GNPAT, LINC00582, LOC149373, MIR1182, NUP133, PGBD5, SNRPD2P2, SPRTN, TAF5L, TRIM67, TSNAX, TSNAX-DISC1, TTC13, URB2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351296
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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