A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010078



Internal ID22071709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4388755..4892012hg38UCSC Ensembl
Outerchr17:4386079..4898009hg38UCSC Ensembl
Innerchr17:4292050..4795307hg19UCSC Ensembl
Outerchr17:4289374..4801304hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38511931
hg19511931
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155370
Supporting Variants
Samples
Known GenesALOX15, ARRB2, CHRNE, CXCL16, GGT6, GLTPD2, LOC101559451, MED11, MINK1, MYBBP1A, PELP1, PLD2, PSMB6, SMTNL2, SPNS2, SPNS3, TM4SF5, VMO1, ZMYND15
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010078
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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