A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031706



Internal ID18774240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12092030..12532643hg38UCSC Ensembl
Innerchr8:11949539..12390152hg19UCSC Ensembl
Innerchr8:11986948..12434523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38440614
hg19440614
hg18447576
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7018n100
Supporting Variantsnssv3681793, nssv3681792
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031706
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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