A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169483



Internal ID21313966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52342601..52389173hg38UCSC Ensembl
Outerchr3:52340022..52397741hg38UCSC Ensembl
Innerchr3:52376617..52423189hg19UCSC Ensembl
Outerchr3:52374038..52431757hg19UCSC Ensembl
Innerchr3:52351657..52398229hg18UCSC Ensembl
Outerchr3:52349078..52406797hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3857720
hg1957720
hg1857720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250626
SamplesNGO_28
Known GenesDNAH1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169483
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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