A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027883



Internal ID18770414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6712833..7392846hg38UCSC Ensembl
Innerchr8:6570354..7250368hg19UCSC Ensembl
Innerchr8:6557762..7237778hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38680014
hg19680015
hg18680017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6878n100
Supporting Variantsnssv3677435
Samples
Known GenesAGPAT5, DEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFB109P1B, DEFT1P, DEFT1P2, FAM66B, LINC00965, LOC100652791, MIR4659A, MIR4659B, USP17L1P, USP17L4, XKR5, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027883
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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