A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1775683



Internal ID17763271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:87502301..87508193hg38UCSC Ensembl
Innerchr1:87967984..87973876hg19UCSC Ensembl
Innerchr1:87740572..87746464hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg385893
hg195893
hg185893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946048
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1775683
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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