A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056011



Internal ID18798542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36109723..36258784hg38UCSC Ensembl
Innerchr17:34437116..34586282hg19UCSC Ensembl
Innerchr17:31461229..31610395hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38149062
hg19149167
hg18149167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3145n100
Supporting Variantsnssv3561417, nssv3561416, nssv3561423, nssv3720211, nssv3720210, nssv3561420, nssv3561425, nssv3720204, nssv3561422, nssv3561426, nssv3720206, nssv3561419, nssv3720208, nssv3561415, nssv3720203, nssv3720207, nssv3720209, nssv3561421, nssv3561418, nssv3561424, nssv3561414, nssv3720205
Samples
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056011
Frequency
Sample Size29084
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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