A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014012



Internal ID18756544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247044630..247125836hg38UCSC Ensembl
Innerchr1:247207932..247289138hg19UCSC Ensembl
Innerchr1:245274555..245355761hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3881207
hg1981207
hg1881207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496219
Samples
Known GenesC1orf229, ZNF124, ZNF669, ZNF670, ZNF670-ZNF695
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014012
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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