A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1795330



Internal ID17814034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143278133..143304755hg38UCSC Ensembl
Innerchr1:149005554..149031916hg19UCSC Ensembl
Innerchr1:147272178..147298540hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3826623
hg1926363
hg1826363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946354
Supporting Variants
SamplesHGDP00927
Known GenesLOC101929780
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)nssv1795330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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