A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1818586



Internal ID17397512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214482250..214483461hg38UCSC Ensembl
Innerchr1:214655593..214656804hg19UCSC Ensembl
Innerchr1:212722216..212723427hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381212
hg191212
hg181212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945284
Supporting Variants
SamplesHGDP00521
Known GenesPTPN14
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)nssv1818586
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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