A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060436



Internal ID19149655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452066..18593977hg38UCSC Ensembl
Innerchr17:18355380..18497291hg19UCSC Ensembl
Innerchr17:18296105..18438016hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38141912
hg19141912
hg18141912
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3114n100
Supporting Variantsnssv3560494, nssv3560493, nssv3560496, nssv3560499, nssv3719955, nssv3560501, nssv3560498, nssv3560503, nssv3719953, nssv3560495, nssv3560497, nssv3560502, nssv3719954, nssv3560500
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060436
Frequency
Sample Size11257
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


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