A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209731



Internal ID22357761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76265819..76266179hg38UCSC Ensembl
chr7:75895137..75895497hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8606n152
Supporting Variantsnssv14337355, nssv14337358, nssv14337360, nssv14337356, nssv14337357, nssv14337354, nssv14337359
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesSRRM3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209731
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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