A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1755070



Internal ID17389446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19267253..19272269hg38UCSC Ensembl
Innerchr1:19593747..19598763hg19UCSC Ensembl
Innerchr1:19466334..19471350hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385017
hg195017
hg185017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945806
Supporting Variants
SamplesHGDP00456
Known GenesAKR7L
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)nssv1755070
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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