A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2605212



Internal ID17784617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215499121..215499856hg38UCSC Ensembl
Innerchr1:215672464..215673199hg19UCSC Ensembl
Innerchr1:213739087..213739822hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38736
hg19736
hg18736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv945288
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2605212
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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