A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067547



Internal ID19156766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18455620..18606833hg38UCSC Ensembl
Innerchr17:18358934..18510146hg19UCSC Ensembl
Innerchr17:18299659..18450871hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38151214
hg19151213
hg18151213
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3114n100
Supporting Variantsnssv3719972, nssv3719971
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067547
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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