A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1788409



Internal ID17830291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143964558..144020623hg38UCSC Ensembl
Innerchr1:143905715..143961793hg19UCSC Ensembl
Innerchr1:142617060..142673143hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3856066
hg1956079
hg1856084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946220
Supporting Variants
SamplesHGDP00998
Known GenesFAM72D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1788409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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