A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020976



Internal ID19110194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2046975..2067934hg38UCSC Ensembl
Innerchr8:1995090..2016053hg19UCSC Ensembl
Innerchr8:1982497..2003460hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3820960
hg1920964
hg1820964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6807n100
Supporting Variantsnssv3757775
Samples
Known GenesMYOM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020976
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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