A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401049



Internal ID22317541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126635545..126642245hg38UCSC Ensembl
chr7:126275599..126282299hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184094
Supporting Variants
SamplesNA19240
Known GenesGRM8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14401049
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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