A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194527



Internal ID22344833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52651218..52651519hg38UCSC Ensembl
chr12:53045002..53045303hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443024
SamplesHG00733
Known GenesKRT2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194527
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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