A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169464



Internal ID21313947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126669032..126699661hg38UCSC Ensembl
Outerchr3:126667048..126706818hg38UCSC Ensembl
Innerchr3:126387875..126418504hg19UCSC Ensembl
Outerchr3:126385891..126425661hg19UCSC Ensembl
Innerchr3:127870565..127901194hg18UCSC Ensembl
Outerchr3:127868581..127908351hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3839771
hg1939771
hg1839771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14243641
SamplesNGO_23
Known GenesCHCHD6, NUP210P1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169464
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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