A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18157571



Internal ID20724611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5030738..6714760hg38UCSC Ensembl
chr7:5070369..6754391hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381684023
hg191684023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6619237
Supporting Variants
Samples
Known GenesACTB, AIMP2, ANKRD61, C7orf26, CCZ1, CYTH3, DAGLB, EIF2AK1, FAM220A, FBXL18, FSCN1, GRID2IP, KDELR2, MIR589, MIR6874, OCM, PMS2, RAC1, RBAK, RBAKDN, RBAK-RBAKDN, RNF216, RNF216-IT1, RSPH10B, RSPH10B2, SLC29A4, TNRC18, USP42, WIPI2, ZDHHC4, ZNF12, ZNF316, ZNF815P, ZNF853, ZNF890P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18157571
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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