A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610191



Internal ID16050914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8892459..8893388hg38UCSC Ensembl
Innerchr8:8749969..8750898hg19UCSC Ensembl
Innerchr8:8787379..8788308hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38930
hg19930
hg18930
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11941n54
Supporting Variantsnssv1105958, nssv1105959, nssv1105960
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610191
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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