A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3482n106



Internal ID20162839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4983095..5803122hg38UCSC Ensembl
chr7:5022726..5842753hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38820028
hg19820028
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1116477, nsv1120063
SamplesKWS2, KWS1
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)dgv3482n106
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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