A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247183



Internal ID21309784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168472373..168477203hg38UCSC Ensembl
Outerchr6:168469779..168477860hg38UCSC Ensembl
Innerchr6:168873053..168877883hg19UCSC Ensembl
Outerchr6:168870459..168878540hg19UCSC Ensembl
Innerchr6:168615902..168620732hg18UCSC Ensembl
Outerchr6:168613308..168621389hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388082
hg198082
hg188082
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169383
Supporting Variants
SamplesNGO_52
Known GenesSMOC2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247183
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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