A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028849



Internal ID19118068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376777..12418220hg38UCSC Ensembl
Innerchr8:12234286..12275729hg19UCSC Ensembl
Innerchr8:12278657..12320100hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3841444
hg1941444
hg1841444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7059n100
Supporting Variantsnssv3663842
Samples
Known GenesDEFB109P1, FAM66A, FAM90A25P, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028849
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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