A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249077



Internal ID21306003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2096524..2173309hg38UCSC Ensembl
Outerchr8:2092573..2173516hg38UCSC Ensembl
Innerchr8:2044363..2121238hg19UCSC Ensembl
Outerchr8:2040401..2121444hg19UCSC Ensembl
Innerchr8:2031770..2108645hg18UCSC Ensembl
Outerchr8:2027808..2108851hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3880944
hg1981044
hg1881044
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesNGO_24
Known GenesMYOM2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249077
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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