A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2926714



Internal ID15460646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71032857..71062913hg38UCSC Ensembl
Innerchr5:70328684..70358740hg19UCSC Ensembl
Innerchr5:70364440..70394496hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3830057
hg1930057
hg1830057
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515025
Supporting Variants
SamplesNA21601
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2926714
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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