A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066655



Internal ID18809186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46194634..46286792hg38UCSC Ensembl
Innerchr17:44272000..44364158hg19UCSC Ensembl
Innerchr17:41627777..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3892159
hg1992159
hg1892159
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3234n100
Supporting Variantsnssv3557433, nssv3557434, nssv3725378, nssv3725376, nssv3557435, nssv3725377
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)nsv1066655
Frequency
Sample Size29084
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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