A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030963



Internal ID18773495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12389667hg38UCSC Ensembl
Innerchr8:12162727..12247176hg19UCSC Ensembl
Innerchr8:12207096..12291547hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3884450
hg1984450
hg1884452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7031n100
Supporting Variantsnssv3681997, nssv3681998
Samples
Known GenesDEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030963
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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