A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1776841



Internal ID17829533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99695991..99701566hg38UCSC Ensembl
Innerchr1:100161547..100167122hg19UCSC Ensembl
Innerchr1:99934135..99939710hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385576
hg195576
hg185576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946093
Supporting Variants
SamplesHGDP00998
Known GenesMIR548AA1, MIR548D1
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)nssv1776841
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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