A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200918



Internal ID22350304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27107089..27108086hg38UCSC Ensembl
chr1:27433580..27434577hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14356879, nssv14356881, nssv14356880
SamplesHG00731, HG00732, HG00514
Known GenesSLC9A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200918
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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