A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610201



Internal ID16050924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8892675..8893565hg38UCSC Ensembl
Innerchr8:8750185..8751075hg19UCSC Ensembl
Innerchr8:8787595..8788485hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38891
hg19891
hg18891
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11941n54
Supporting Variantsnssv1105983, nssv1105984
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610201
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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