A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1867029



Internal ID17795957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:114245613..114247178hg38UCSC Ensembl
Innerchr10:116005372..116006937hg19UCSC Ensembl
Innerchr10:115995362..115996927hg18UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg381566
hg191566
hg181566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948192
Supporting Variants
SamplesHGDP00778
Known GenesVWA2
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)nssv1867029
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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