A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1978528



Internal ID17384402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21210389..21211709hg38UCSC Ensembl
Innerchr14:21678548..21679868hg19UCSC Ensembl
Innerchr14:20748388..20749708hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381321
hg191321
hg181321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974313
Supporting Variants
SamplesHGDP00456
Known GenesHNRNPC
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)nssv1978528
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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