A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548961



Internal ID22417909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56937311..57086047hg38UCSC Ensembl
chr7:57005018..57153754hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38148737
hg19148737
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461034, nssv14457540, nssv14458147, nssv14456256, nssv14463060, nssv14464136, nssv14453862, nssv14455404
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR4283-1, MIR4283-2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548961
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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