A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960400



Internal ID18595651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7574339..7575434hg38UCSC Ensembl
Innerchr17:7477657..7478752hg19UCSC Ensembl
Innerchr17:7418381..7419476hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2073004, nssv2073000, nssv2073007, nssv2073001, nssv2073005, nssv2073008, nssv2073003, nssv2073009, nssv2073002, nssv2073006
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF4A1, SENP3-EIF4A1, SNORA48
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960400
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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