A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008760



Internal ID19097978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244353010..244370159hg38UCSC Ensembl
Innerchr1:244516312..244533461hg19UCSC Ensembl
Innerchr1:242582935..242600084hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3817150
hg1917150
hg1817150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502213
Samples
Known GenesC1orf100
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008760
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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