A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2766000



Internal ID17509992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:29412918..29420458hg38UCSC Ensembl
Innerchr10:29701847..29709387hg19UCSC Ensembl
Innerchr10:29741853..29749393hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg387541
hg197541
hg187541
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975794
Supporting Variants
SamplesHGDP01029
Known GenesPTCHD3P1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2766000
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