A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2076996



Internal ID17768241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13665775..13678541hg38UCSC Ensembl
Innerchr17:13569092..13581858hg19UCSC Ensembl
Innerchr17:13509817..13522583hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3812767
hg1912767
hg1812767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962258
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2076996
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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