A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381674



Internal ID22290020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76265825..76266169hg38UCSC Ensembl
chr7:75895143..75895487hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287945
Supporting Variants
SamplesNA19240
Known GenesSRRM3
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)nssv14381674
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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