A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1822203



Internal ID17414133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227712238..227730075hg38UCSC Ensembl
Innerchr1:227899939..227917776hg19UCSC Ensembl
Innerchr1:225966562..225984399hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817838
hg1917838
hg1817838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945344
Supporting Variants
SamplesHGDP00542
Known GenesLOC100130093
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)nssv1822203
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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