A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2327039



Internal ID17504598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86860245..86877360hg38UCSC Ensembl
Innerchr4:87781398..87798513hg19UCSC Ensembl
Innerchr4:88000422..88017537hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3817116
hg1917116
hg1817116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967771
Supporting Variants
SamplesHGDP01029
Known GenesC4orf36
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2327039
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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