A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2363918



Internal ID17457674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71018060..71130308hg38UCSC Ensembl
Innerchr5:70313887..70426135hg19UCSC Ensembl
Innerchr5:70349643..70461891hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38112249
hg19112249
hg18112249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980677
Supporting Variants
SamplesHGDP00778
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2363918
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer