A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056679



Internal ID19145898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136346..46276519hg38UCSC Ensembl
Innerchr17:44213712..44353885hg19UCSC Ensembl
Innerchr17:41569489..41709662hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38140174
hg19140174
hg18140174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3204n100
Supporting Variantsnssv3550154, nssv3550155
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)nsv1056679
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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