A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798852



Internal ID17484037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155678431..155679585hg38UCSC Ensembl
Innerchr1:155648222..155649376hg19UCSC Ensembl
Innerchr1:153914846..153916000hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg381155
hg191155
hg181155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946420
Supporting Variants
SamplesHGDP00998
Known GenesYY1AP1
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)nssv1798852
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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