A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972581



Internal ID18261111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8860804..8867499hg38UCSC Ensembl
Innerchr8:8718314..8725009hg19UCSC Ensembl
Innerchr8:8755724..8762419hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386696
hg196696
hg186696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765984
SamplesHGDP00998
Known GenesMFHAS1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972581
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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