A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116477



Internal ID18911225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:4983095..5731407hg38UCSC Ensembl
Outerchr7:5022726..5771038hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38748313
hg19748313
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3482n106
Supporting Variantsnssv3978658
SamplesKWS2
Known GenesACTB, FBXL18, FSCN1, MIR589, MIR6874, RBAK, RBAKDN, RBAK-RBAKDN, RNF216, RNF216-IT1, RNF216P1, SLC29A4, TNRC18, WIPI2, ZNF890P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116477
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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