A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437637



Internal ID22180724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66392657..66395118hg38UCSC Ensembl
chr7:65857644..65860105hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382462
hg192462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285701
Supporting Variants
SamplesHG00514
Known GenesLINC00174
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14437637
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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