A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056044



Internal ID19145263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36116419..36208237hg38UCSC Ensembl
Innerchr17:34443800..34535639hg19UCSC Ensembl
Innerchr17:31467913..31559752hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3891819
hg1991840
hg1891840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3146n100
Supporting Variantsnssv3720830, nssv3562336, nssv3562331, nssv3562338, nssv3562332, nssv3562334, nssv3720829, nssv3720828, nssv3720827, nssv3562337, nssv3562335, nssv3562333
Samples
Known GenesCCL3L1, CCL3L3, TBC1D3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056044
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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