A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1870118



Internal ID17763059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122592000..122619400hg38UCSC Ensembl
Innerchr10:124351516..124378916hg19UCSC Ensembl
Innerchr10:124341506..124368906hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3827401
hg1927401
hg1827401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948210
Supporting Variants
SamplesHGDP00542
Known GenesDMBT1
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)nssv1870118
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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