A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975673



Internal ID19232743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:123265031..123265096hg38UCSC Ensembl
Outerchr8:124277271..124277336hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124373
Supporting Variants
SamplesKWS2
Known GenesZHX1, ZHX1-C8ORF76
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975673
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