A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531753



Internal ID22401103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75258150..75258150hg38UCSC Ensembl
chr7:74673773..74673773hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427275
SamplesHG00514
Known GenesGTF2IP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531753
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer