A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008245



Internal ID18750776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13269712..13366311hg38UCSC Ensembl
Innerchr1:13375333..13471933hg19UCSC Ensembl
Innerchr1:13247920..13344520hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3896600
hg1996601
hg1896601
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3477492, nssv3470297, nssv3467514, nssv3470021, nssv3698785, nssv3464507
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF7, PRAMEF8, PRAMEF9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008245
Frequency
Sample Size29084
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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