A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762726



Internal ID17487094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42700845..42717445hg38UCSC Ensembl
Innerchr1:43166516..43183116hg19UCSC Ensembl
Innerchr1:42939103..42955703hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3816601
hg1916601
hg1816601
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945908
Supporting Variants
SamplesHGDP00998
Known GenesYBX1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762726
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