A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2102799



Internal ID17767179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56368149..56370430hg38UCSC Ensembl
Innerchr17:54445510..54447791hg19UCSC Ensembl
Innerchr17:51800509..51802790hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382282
hg192282
hg182282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960507
Supporting Variants
SamplesHGDP00542
Known GenesANKFN1
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)nssv2102799
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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