A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249034



Internal ID21306869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127937888..127945252hg38UCSC Ensembl
Outerchr8:127935979..127950518hg38UCSC Ensembl
Innerchr8:128950134..128957498hg19UCSC Ensembl
Outerchr8:128948225..128962764hg19UCSC Ensembl
Innerchr8:129019316..129026680hg18UCSC Ensembl
Outerchr8:129017407..129031946hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3814540
hg1914540
hg1814540
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169835
Supporting Variants
SamplesNGO_30
Known GenesPVT1, TMEM75
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249034
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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