A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999310



Internal ID16945576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:93832673..93835372hg38UCSC Ensembl
Outerchr8:94844901..94847600hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951457
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999310
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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