A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798743



Internal ID17525272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153405218..153417874hg38UCSC Ensembl
Innerchr1:153377694..153390350hg19UCSC Ensembl
Innerchr1:151644318..151656974hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3812657
hg1912657
hg1812657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946398
Supporting Variants
SamplesHGDP01284
Known GenesS100A7A
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)nssv1798743
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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