A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1815505



Internal ID17388722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207676101..207712783hg38UCSC Ensembl
Innerchr1:207849446..207886128hg19UCSC Ensembl
Innerchr1:205916069..205952751hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3836683
hg1936683
hg1836683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945269
Supporting Variants
SamplesHGDP00456
Known GenesCR1L
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)nssv1815505
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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