A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458637



Internal ID22516520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68979629..71845571hg38UCSC Ensembl
chrX:68199472..71065421hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg382865943
hg192865950
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976160
Supporting Variants
Samples
Known GenesACRC, ARR3, AWAT1, AWAT2, BCYRN1, CXCR3, CXorf49, CXorf49B, CXorf65, DGAT2L6, DLG3, EDA, FAM155B, FOXO4, GDPD2, GJB1, IGBP1, IL2RG, INGX, ITGB1BP2, KIF4A, LINC00269, LINC00891, LOC100132741, MED12, MIR676, NLGN3, NONO, OGT, OTUD6A, P2RY4, PDZD11, PJA1, RAB41, SLC7A3, SNX12, TAF1, TEX11, ZMYM3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458637
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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