A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067192



Internal ID19156411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46286792hg38UCSC Ensembl
Innerchr17:44224533..44364158hg19UCSC Ensembl
Innerchr17:41580310..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38139626
hg19139626
hg18139626
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3556863, nssv3724189, nssv3724190, nssv3724186, nssv3556864, nssv3724187, nssv3724188
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)nsv1067192
Frequency
Sample Size11257
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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