A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2595905



Internal ID17467783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148550462..148551057hg38UCSC Ensembl
Innerchr1:148275843..148276500hg19UCSC Ensembl
Innerchr1:146642467..146643124hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38596
hg19658
hg18658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946905
Supporting Variants
SamplesHGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2595905
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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