A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1762897



Internal ID17869398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44093335..44106556hg38UCSC Ensembl
Innerchr1:44559007..44572228hg19UCSC Ensembl
Innerchr1:44331594..44344815hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3813222
hg1913222
hg1813222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945911
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv1762897
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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