A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003930



Internal ID18746461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58464772..58691366hg38UCSC Ensembl
Innerchr1:58930444..59157038hg19UCSC Ensembl
Innerchr1:58703032..58929626hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38226595
hg19226595
hg18226595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3467107
Samples
Known GenesMYSM1, OMA1, TACSTD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003930
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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