A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2077873



Internal ID17848456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14187748..14194892hg38UCSC Ensembl
Innerchr17:14091065..14098209hg19UCSC Ensembl
Innerchr17:14031790..14038934hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg387145
hg197145
hg187145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960415
Supporting Variants
SamplesHGDP01029
Known GenesCOX10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2077873
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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