A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1774143



Internal ID17870570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83188672..83215979hg38UCSC Ensembl
Innerchr1:83654355..83681662hg19UCSC Ensembl
Innerchr1:83426943..83454250hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3827308
hg1927308
hg1827308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946028
Supporting Variants
SamplesHGDP01284
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)nssv1774143
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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