A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1790410



Internal ID17533368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147036027..147038875hg38UCSC Ensembl
Innerchr1:146507583..146510432hg19UCSC Ensembl
Innerchr1:144974207..144977056hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382849
hg192850
hg182850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946297
Supporting Variants
SamplesHGDP01307
Known GenesLOC728989
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1790410
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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