A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976512



Internal ID22751447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5976108..6745714hg38UCSC Ensembl
chr7:6015739..6785345hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38769607
hg19769607
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443245
Samples
Known GenesAIMP2, ANKRD61, C7orf26, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, KDELR2, PMS2, PMS2CL, RAC1, USP42, ZDHHC4, ZNF12, ZNF316, ZNF853
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976512
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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