A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981976



Internal ID19223729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22048589..22049389hg38UCSC Ensembl
Outerchr8:21906100..21906900hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119170
Supporting Variants
SamplesKWS1
Known GenesFGF17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981976
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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