A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249504



Internal ID21306817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65684197..65697317hg38UCSC Ensembl
Outerchr6:65683455..65698582hg38UCSC Ensembl
Innerchr6:66394090..66407210hg19UCSC Ensembl
Outerchr6:66393348..66408475hg19UCSC Ensembl
Innerchr6:66450811..66463931hg18UCSC Ensembl
Outerchr6:66450069..66465196hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3815128
hg1915128
hg1815128
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170310
Supporting Variants
SamplesNGO_3
Known GenesEYS
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249504
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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