A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1757085



Internal ID17777988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27311740..27314423hg38UCSC Ensembl
Innerchr1:27638231..27640914hg19UCSC Ensembl
Innerchr1:27510818..27513501hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382684
hg192684
hg182684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945849
Supporting Variants
SamplesHGDP00665
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)nssv1757085
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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