A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2362430



Internal ID17426899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70409896..70482129hg38UCSC Ensembl
Innerchr5:69705723..69777956hg19UCSC Ensembl
Innerchr5:69741479..69813712hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3872234
hg1972234
hg1872234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980670
Supporting Variants
SamplesHGDP00542
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4, SMA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2362430
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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