A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105987



Internal ID15612487
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 StatusS
Merged Variantsnsv610204
Supporting Variants
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105987
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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