A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610193



Internal ID16397602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8892459..8893806hg38UCSC Ensembl
Innerchr8:8749969..8751316hg19UCSC Ensembl
Innerchr8:8787379..8788726hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381348
hg191348
hg181348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11942n54
Supporting Variantsnssv1105967, nssv1105965, nssv1105966, nssv1105968, nssv1105971, nssv1105969, nssv1105970, nssv1105972
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610193
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer