A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169893



Internal ID21313704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2029164..2301772hg38UCSC Ensembl
Outerchr8:2026336..2308583hg38UCSC Ensembl
Innerchr8:1977327..2247827hg19UCSC Ensembl
Outerchr8:1974499..2254638hg19UCSC Ensembl
Innerchr8:1964734..2235234hg18UCSC Ensembl
Outerchr8:1961906..2242045hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38282248
hg19280140
hg18280140
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246511, nssv14246298, nssv14251178, nssv14251332, nssv14245851, nssv14243709, nssv14245023, nssv14252522, nssv14244946, nssv14246671, nssv14249077, nssv14248868, nssv14251967, nssv14243360, nssv14246250, nssv14250582, nssv14248187, nssv14251309, nssv14243817, nssv14248049, nssv14248318, nssv14248552, nssv14241927, nssv14251963, nssv14248304
SamplesNGO_13, NGO_21, MLY_15, NGO_22, NGO_27, NGO_28, SNI_7, NGO_24, NGO_47, NGO_36, MLY_4, SNI_14, NGO_15
Known GenesMIR7160, MYOM2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169893
Frequency
Sample Size93
Observed Gain9
Observed Loss4
Observed Complex0
Frequencyn/a


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