A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246475



Internal ID21311387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31958485..31964286hg38UCSC Ensembl
Outerchr13:31957984..31965910hg38UCSC Ensembl
Innerchr13:32532622..32538423hg19UCSC Ensembl
Outerchr13:32532121..32540047hg19UCSC Ensembl
Innerchr13:31430622..31436423hg18UCSC Ensembl
Outerchr13:31430121..31438047hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg387927
hg197927
hg187927
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169534
Supporting Variants
SamplesSNI_1
Known GenesEEF1DP3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246475
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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