A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17519204



Internal ID21843563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95946252..97156223hg38UCSC Ensembl
chr2:96612000..97821960hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381209972
hg191209961
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6103221
Supporting Variants
Samples
Known GenesADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAHD2CP, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17519204
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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