A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176962



Internal ID22334168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937747..174938841hg38UCSC Ensembl
chr1:174906884..174907978hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv467n152
Supporting Variantsnssv14375635, nssv14440706
SamplesNA19240, HG00733
Known GenesRABGAP1L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3176962
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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