A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1808693



Internal ID17760335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175044035..175049937hg38UCSC Ensembl
Innerchr1:175013171..175019073hg19UCSC Ensembl
Innerchr1:173279794..173285696hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg385903
hg195903
hg185903
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946512
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)nssv1808693
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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