A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1770263



Internal ID17737524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68242472..68244421hg38UCSC Ensembl
Innerchr1:68708155..68710104hg19UCSC Ensembl
Innerchr1:68480743..68482692hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381950
hg191950
hg181950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945988
Supporting Variants
SamplesHGDP00456
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)nssv1770263
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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