A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205351



Internal ID22354056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75272161..75273666hg38UCSC Ensembl
chr7:74687797..74689303hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381506
hg191507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8604n152
Supporting Variantsnssv14437923, nssv14383328, nssv14455875
SamplesNA19240, HG00733, HG00514
Known GenesGTF2IP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205351
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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