A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2358953



Internal ID17539080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69533188..69623455hg38UCSC Ensembl
Innerchr5:68829015..68919282hg19UCSC Ensembl
Innerchr5:68864771..68955038hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3890268
hg1990268
hg1890268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968189
Supporting Variants
SamplesHGDP01307
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2358953
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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