A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2307574



Internal ID17862174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195346054..195349981hg38UCSC Ensembl
Innerchr3:195066783..195070710hg19UCSC Ensembl
Innerchr3:196548072..196551999hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383928
hg193928
hg183928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963394
Supporting Variants
SamplesHGDP01284
Known GenesACAP2
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)nssv2307574
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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