A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1807882



Internal ID17735144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174842111..174850409hg38UCSC Ensembl
Innerchr1:174811249..174819547hg19UCSC Ensembl
Innerchr1:173077872..173086170hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg388299
hg198299
hg188299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946510
Supporting Variants
SamplesHGDP00456
Known GenesRABGAP1L
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)nssv1807882
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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