A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2313203



Internal ID17424825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9783203..9800987hg38UCSC Ensembl
Innerchr4:9784827..9802611hg19UCSC Ensembl
Innerchr4:9393925..9411709hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3817785
hg1917785
hg1817785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv964032
Supporting Variants
SamplesHGDP00542
Known GenesDRD5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2313203
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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