A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1785596



Internal ID17871394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121390485..121407875hg38UCSC Ensembl
Innerchr1:121132346..121149735hg19UCSC Ensembl
Innerchr1:120833869..120851258hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3817391
hg1917390
hg1817390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946201
Supporting Variants
SamplesHGDP01284
Known GenesSRGAP2-AS1
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)nssv1785596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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