A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015272



Internal ID19104489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7067578..7368902hg38UCSC Ensembl
Innerchr8:6925100..7226424hg19UCSC Ensembl
Innerchr8:6912510..7213834hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38301325
hg19301325
hg18301325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6884n100
Supporting Variantsnssv3677458, nssv3753996
Samples
Known GenesDEFB109P1B, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015272
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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