A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1854449



Internal ID17432084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46389043..46397687hg38UCSC Ensembl
Innerchr10:47760300..47768953hg19UCSC Ensembl
Innerchr10:47230306..47238959hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg388645
hg198654
hg188654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv947950
Supporting Variants
SamplesHGDP00665
Known GenesANXA8L1, ANXA8L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1854449
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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