A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1992749



Internal ID17882082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81001262..81004338hg38UCSC Ensembl
Innerchr14:81467606..81470682hg19UCSC Ensembl
Innerchr14:80537359..80540435hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383077
hg193077
hg183077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983844
Supporting Variants
SamplesHGDP01307
Known GenesTSHR
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)nssv1992749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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