A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2077824



Internal ID17765751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14179603..14185525hg38UCSC Ensembl
Innerchr17:14082920..14088842hg19UCSC Ensembl
Innerchr17:14023645..14029567hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg385923
hg195923
hg185923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960414
Supporting Variants
SamplesHGDP00542
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)nssv2077824
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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