A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1794976



Internal ID17880260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143431401..143456495hg38UCSC Ensembl
Innerchr1:148896491..148921596hg19UCSC Ensembl
Innerchr1:147163115..147188220hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3825095
hg1925106
hg1825106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946350
Supporting Variants
SamplesHGDP01307
Known GenesLOC101929780
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)nssv1794976
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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