A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058143



Internal ID19147362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452066..18606833hg38UCSC Ensembl
Innerchr17:18355380..18510146hg19UCSC Ensembl
Innerchr17:18296105..18450871hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38154768
hg19154767
hg18154767
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3114n100
Supporting Variantsnssv3560514, nssv3560509, nssv3560525, nssv3719963, nssv3560520, nssv3560515, nssv3719959, nssv3719970, nssv3719956, nssv3719961, nssv3719958, nssv3719964, nssv3719967, nssv3560524, nssv3560505, nssv3560508, nssv3560519, nssv3719969, nssv3560516, nssv3560522, nssv3560510, nssv3560506, nssv3719968, nssv3719960, nssv3560513, nssv3560507, nssv3560517, nssv3560511, nssv3560518, nssv3560521, nssv3719957, nssv3560504, nssv3560523, nssv3719965, nssv3560512, nssv3719966, nssv3719962
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)nsv1058143
Frequency
Sample Size11257
Observed Gain31
Observed Loss6
Observed Complex0
Frequencyn/a


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