A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031801



Internal ID19121023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1960987..2326366hg38UCSC Ensembl
Innerchr8:1909153..2272426hg19UCSC Ensembl
Innerchr8:1896560..2259833hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38365380
hg19363274
hg18363274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3675069
Samples
Known GenesKBTBD11, MIR7160, MYOM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031801
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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