A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1759589



Internal ID17522362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39516701..39519667hg38UCSC Ensembl
Innerchr1:39982373..39985339hg19UCSC Ensembl
Innerchr1:39754960..39757926hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382967
hg192967
hg182967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945891
Supporting Variants
SamplesHGDP01284
Known GenesBMP8A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1759589
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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