A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195952



Internal ID22346048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937620..174937737hg38UCSC Ensembl
chr1:174906757..174906874hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295645, nssv14295644, nssv14295643
SamplesNA19238, NA19239, NA19240
Known GenesRABGAP1L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195952
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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