A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243283



Internal ID21312896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129871184..129929103hg38UCSC Ensembl
Outerchr6:129860635..129929522hg38UCSC Ensembl
Innerchr6:130192329..130250248hg19UCSC Ensembl
Outerchr6:130181780..130250667hg19UCSC Ensembl
Innerchr6:130234022..130291941hg18UCSC Ensembl
Outerchr6:130223473..130292360hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3868888
hg1968888
hg1868888
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169769
Supporting Variants
SamplesSNI_5
Known GenesTMEM244
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243283
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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