A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2614128



Internal ID17506351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46122042..46123595hg38UCSC Ensembl
Innerchr10:51472227..51473780hg19UCSC Ensembl
Innerchr10:51142233..51143786hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381554
hg191554
hg181554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975699
Supporting Variants
SamplesHGDP01029
Known GenesAGAP7
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)nssv2614128
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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