A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1805629



Internal ID17525528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161594892..161670153hg38UCSC Ensembl
Innerchr1:161564682..161639943hg19UCSC Ensembl
Innerchr1:159831306..159906567hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3875262
hg1975262
hg1875262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946468
Supporting Variants
SamplesHGDP01284
Known GenesFCGR2B, FCGR2C, FCGR3B, HSPA7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1805629
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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