A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105976



Internal ID15612476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8892480..8893502hg38UCSC Ensembl
Innerchr8:8749990..8751012hg19UCSC Ensembl
Innerchr8:8787400..8788422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381023
hg191023
hg181023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610195
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)nssv1105976
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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