A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1787363



Internal ID17879936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145254761..145279144hg38UCSC Ensembl
Innerchr1:144377315..144401744hg19UCSC Ensembl
Innerchr1:143088672..143113167hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3824384
hg1924430
hg1824496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946230
Supporting Variants
SamplesHGDP01307
Known GenesLOC100288142
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)nssv1787363
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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