A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1769883



Internal ID17432502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64984260..64985707hg38UCSC Ensembl
Innerchr1:65449943..65451390hg19UCSC Ensembl
Innerchr1:65222531..65223978hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381448
hg191448
hg181448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945980
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)nssv1769883
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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