A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1802065



Internal ID17872080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157767314..157768102hg38UCSC Ensembl
Innerchr1:157737104..157737892hg19UCSC Ensembl
Innerchr1:156003728..156004516hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38789
hg19789
hg18789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946434
Supporting Variants
SamplesHGDP01284
Known GenesFCRL2
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)nssv1802065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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