A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055199



Internal ID19144418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136346..46284631hg38UCSC Ensembl
Innerchr17:44213712..44361997hg19UCSC Ensembl
Innerchr17:41569489..41717774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38148286
hg19148286
hg18148286
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3550156, nssv3550157, nssv3723878
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055199
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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