A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1784722



Internal ID17764035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143923639..144015531hg38UCSC Ensembl
Innerchr1:120795395..120887623hg19UCSC Ensembl
Innerchr1:120596918..120689146hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3891893
hg1992229
hg1892229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946195
Supporting Variants
SamplesHGDP00542
Known GenesFAM72B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1784722
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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