A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2304955



Internal ID17886128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184026344..184028391hg38UCSC Ensembl
Innerchr3:183744132..183746179hg19UCSC Ensembl
Innerchr3:185226826..185228873hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg382048
hg192048
hg182048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965240
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2304955
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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