A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248121



Internal ID21305797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195656271..195720051hg38UCSC Ensembl
Outerchr3:195559056..195728637hg38UCSC Ensembl
Innerchr3:195383142..195446922hg19UCSC Ensembl
Outerchr3:195285898..195455508hg19UCSC Ensembl
Innerchr3:196868323..196932593hg18UCSC Ensembl
Outerchr3:196767187..196941179hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38169582
hg19169611
hg18173993
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169535
Supporting Variants
SamplesNGO_23
Known GenesAPOD, MIR570, MUC20, SDHAP2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248121
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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