A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020271



Internal ID18762807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12385029hg38UCSC Ensembl
Innerchr8:12162727..12242538hg19UCSC Ensembl
Innerchr8:12207096..12286909hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879812
hg1979812
hg1879814
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7029n100
Supporting Variantsnssv3681994, nssv3681995
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)nsv1020271
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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