A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060599



Internal ID19149818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137986..46286792hg38UCSC Ensembl
Innerchr17:44215352..44364158hg19UCSC Ensembl
Innerchr17:41571129..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38148807
hg19148807
hg18148807
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3724061, nssv3724062, nssv3556631, nssv3556632
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)nsv1060599
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer