A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060445



Internal ID19149664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41237517..41274267hg38UCSC Ensembl
Innerchr17:39393769..39430519hg19UCSC Ensembl
Innerchr17:36647295..36684045hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3836751
hg1936751
hg1836751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3159n100
Supporting Variantsnssv3562557, nssv3562558
Samples
Known GenesKRTAP9-4, KRTAP9-6, KRTAP9-8, KRTAP9-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060445
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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