A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1770075



Internal ID17762763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65225877..65227819hg38UCSC Ensembl
Innerchr1:65691560..65693502hg19UCSC Ensembl
Innerchr1:65464148..65466090hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381943
hg191943
hg181943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945983
Supporting Variants
SamplesHGDP00542
Known GenesAK4
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)nssv1770075
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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