A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1966178



Internal ID17767465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60629445..60640535hg38UCSC Ensembl
Innerchr13:61203579..61214669hg19UCSC Ensembl
Innerchr13:60101580..60112670hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3811091
hg1911091
hg1811091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983593
Supporting Variants
SamplesHGDP00542
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)nssv1966178
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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