A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030130



Internal ID18772661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28511580..28577696hg38UCSC Ensembl
Innerchr8:28369097..28435213hg19UCSC Ensembl
Innerchr8:28425016..28491132hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3866117
hg1966117
hg1866117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7157n100
Supporting Variantsnssv3685542, nssv3685543
Samples
Known GenesFZD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030130
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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