A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1996183



Internal ID17860762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96456451..96457926hg38UCSC Ensembl
Innerchr14:96922788..96924263hg19UCSC Ensembl
Innerchr14:95992541..95994016hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381476
hg191476
hg181476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977500
Supporting Variants
SamplesHGDP01284
Known GenesAK7
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)nssv1996183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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