A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1827156



Internal ID17876670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244598225..244600060hg38UCSC Ensembl
Innerchr1:244761527..244763362hg19UCSC Ensembl
Innerchr1:242828150..242829985hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381836
hg191836
hg181836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945426
Supporting Variants
SamplesHGDP01307
Known GenesC1orf101
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)nssv1827156
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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