A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243780



Internal ID21307188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65689644..65693959hg38UCSC Ensembl
Outerchr6:65689589..65697234hg38UCSC Ensembl
Innerchr6:66399537..66403852hg19UCSC Ensembl
Outerchr6:66399482..66407127hg19UCSC Ensembl
Innerchr6:66456258..66460573hg18UCSC Ensembl
Outerchr6:66456203..66463848hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg387646
hg197646
hg187646
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170310
Supporting Variants
SamplesNGO_32
Known GenesEYS
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243780
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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