A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610196



Internal ID16050919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8892480..8893692hg38UCSC Ensembl
Innerchr8:8749990..8751202hg19UCSC Ensembl
Innerchr8:8787400..8788612hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381213
hg191213
hg181213
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11941n54
Supporting Variantsnssv1105977, nssv1105978
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610196
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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