A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244440



Internal ID21306693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42827914..42993457hg38UCSC Ensembl
Outerchr21:42824169..42997564hg38UCSC Ensembl
Innerchr21:44248024..44413567hg19UCSC Ensembl
Outerchr21:44244279..44417674hg19UCSC Ensembl
Innerchr21:43121093..43286636hg18UCSC Ensembl
Outerchr21:43117348..43290743hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38173396
hg19173396
hg18173396
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169841
Supporting Variants
SamplesNGO_3
Known GenesNDUFV3, PKNOX1, WDR4
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244440
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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