A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169723



Internal ID21313534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144928063..144979951hg38UCSC Ensembl
Innerchr1:144029156..144081043hg19UCSC Ensembl
Innerchr1:142740513..142792400hg18UCSC Ensembl
Outerchr1:142735995..143049286hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3851889
hg1951888
hg18313292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14243396
SamplesMLY_15
Known GenesLINC00623, LOC100288142, LOC728875
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169723
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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