A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057986



Internal ID19147205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18410504..18593977hg38UCSC Ensembl
Innerchr17:18313818..18497291hg19UCSC Ensembl
Innerchr17:18254543..18438016hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38183474
hg19183474
hg18183474
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3112n100
Supporting Variantsnssv3719949, nssv3560481, nssv3560482
Samples
Known GenesCCDC144B, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057986
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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