A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1796328



Internal ID17747998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143850137..143904122hg38UCSC Ensembl
Innerchr1:149344703..149398698hg19UCSC Ensembl
Innerchr1:147611327..147665322hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3853986
hg1953996
hg1853996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946361
Supporting Variants
SamplesHGDP00521
Known GenesFCGR1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1796328
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