A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318998



Internal ID17537066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55348971..55355114hg38UCSC Ensembl
Innerchr4:56215138..56221281hg19UCSC Ensembl
Innerchr4:55909895..55916038hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386144
hg196144
hg186144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966270
Supporting Variants
SamplesHGDP01307
Known GenesSRD5A3
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)nssv2318998
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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