A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2606247



Internal ID17774479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248926478..248936992hg38UCSC Ensembl
Innerchr1:249220677..249231191hg19UCSC Ensembl
Innerchr1:247187300..247197814hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3810515
hg1910515
hg1810515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947098
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2606247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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