A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2077169



Internal ID17801739
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 StatusS
Merged Variantsnsv978364
Supporting Variants
SamplesHGDP00778
Known GenesCDRT15P1, COX10-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2077169
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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