A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1761665



Internal ID17794969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39004113..39005894hg38UCSC Ensembl
Innerchr1:39469785..39471566hg19UCSC Ensembl
Innerchr1:39242372..39244153hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381782
hg191782
hg181782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945887
Supporting Variants
SamplesHGDP00778
Known GenesAKIRIN1
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)nssv1761665
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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