A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978364



Internal ID18613569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14022863..14032159hg38UCSC Ensembl
Innerchr17:13926180..13935476hg19UCSC Ensembl
Innerchr17:13866905..13876201hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg389297
hg199297
hg189297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2077171, nssv2077173, nssv2077169, nssv2077176, nssv2077168, nssv2077174, nssv2077175, nssv2077170, nssv2077167, nssv2077172
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCDRT15P1, COX10-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978364
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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