A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172122



Internal ID22331651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191407..193038hg38UCSC Ensembl
chr2:114348505..114350136hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381632
hg191632
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413773
SamplesHG00514
Known GenesWASH2P
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172122
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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