A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1991476



Internal ID17457195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70229959..70248209hg38UCSC Ensembl
Innerchr14:70696676..70714926hg19UCSC Ensembl
Innerchr14:69766429..69784679hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3818251
hg1918251
hg1818251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983840
Supporting Variants
SamplesHGDP00778
Known GenesADAM21P1
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)nssv1991476
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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