A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1815330



Internal ID17760579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206207371..206252536hg38UCSC Ensembl
Innerchr1:206088816..206133959hg19UCSC Ensembl
Innerchr1:204255439..204300582hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3845166
hg1945144
hg1845144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946610
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1815330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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