A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2288884



Internal ID17784352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112183565..112185814hg38UCSC Ensembl
Innerchr3:111902412..111904661hg19UCSC Ensembl
Innerchr3:113385102..113387351hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg382250
hg192250
hg182250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967051
Supporting Variants
SamplesHGDP00665
Known GenesSLC9C1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2288884
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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