A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2765191



Internal ID17830116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60251218..60254375hg38UCSC Ensembl
Innerchr14:60717936..60721093hg19UCSC Ensembl
Innerchr14:59787689..59790846hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383158
hg193158
hg183158
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983969
Supporting Variants
SamplesHGDP00998
Known GenesPPM1A
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2765191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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