A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1752565



Internal ID17430872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:257667..266240hg38UCSC Ensembl
Innerchr1:227418..235991hg19UCSC Ensembl
Innerchr1:217161..225854hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388574
hg198574
hg188694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945708
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)nssv1752565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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