A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205304



Internal ID22354018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7838420..7839625hg38UCSC Ensembl
chr17:7741738..7742943hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381206
hg191206
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3448n152
Supporting Variantsnssv14418631
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205304
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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