A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058510



Internal ID19147729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46203331hg38UCSC Ensembl
Innerchr17:44208144..44280697hg19UCSC Ensembl
Innerchr17:41563921..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3872554
hg1972554
hg1872554
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3213n100
Supporting Variantsnssv3720914, nssv3549890, nssv3720913, nssv3720912, nssv3720910, nssv3549889, nssv3720911, nssv3720909
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058510
Frequency
Sample Size11257
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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