A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1749671



Internal ID17868034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:628516..634676hg38UCSC Ensembl
Innerchr1:563896..570056hg19UCSC Ensembl
Innerchr1:553759..559919hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386161
hg196161
hg186161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945724
Supporting Variants
SamplesHGDP01284
Known GenesMIR6723
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)nssv1749671
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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