A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610204



Internal ID16050927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8892833..8893832hg38UCSC Ensembl
Innerchr8:8750343..8751342hg19UCSC Ensembl
Innerchr8:8787753..8788752hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381000
hg191000
hg181000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105987
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610204
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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