A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1938634



Internal ID17417063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76045528..76048557hg38UCSC Ensembl
Innerchr12:76439308..76442337hg19UCSC Ensembl
Innerchr12:74725575..74728604hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383030
hg193030
hg183030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973093
Supporting Variants
SamplesHGDP00542
Known GenesNAP1L1
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)nssv1938634
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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