A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730107



Internal ID21400918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5841688..6820915hg38UCSC Ensembl
chr7:5881319..6860546hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38979228
hg19979228
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258566, nssv16256332, nssv16257071, nssv16257240, nssv16256297, nssv16257467, nssv16256788, nssv16256784
SamplesNA19238, HG00731
Known GenesAIMP2, ANKRD61, C7orf26, CCZ1, CCZ1B, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, KDELR2, OCM, PMS2, PMS2CL, RAC1, RSPH10B, RSPH10B2, USP42, ZDHHC4, ZNF12, ZNF316, ZNF815P, ZNF853
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730107
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer