A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547092



Internal ID20920297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96007660..97097743hg38UCSC Ensembl
chr2:96673408..97763480hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381090084
hg191090073
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18261633
Samples
Known GenesADRA2B, ANKRD23, 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
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547092
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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