A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378301



Internal ID22313070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30570197..30570263hg38UCSC Ensembl
chr7:30609813..30609879hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235100
Supporting Variants
SamplesNA19240
Known GenesLOC401320
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378301
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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