A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1815339



Internal ID17520866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206155784..206206782hg38UCSC Ensembl
Innerchr1:206134548..206185546hg19UCSC Ensembl
Innerchr1:204301171..204352169hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3850999
hg1950999
hg1850999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946611
Supporting Variants
SamplesHGDP01284
Known GenesFAM72A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1815339
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer