A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1805295



Internal ID17781340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160880732..160882382hg38UCSC Ensembl
Innerchr1:160850522..160852172hg19UCSC Ensembl
Innerchr1:159117146..159118796hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381651
hg191651
hg181651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946457
Supporting Variants
SamplesHGDP00665
Known GenesITLN1
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)nssv1805295
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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