A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545039



Internal ID15985762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1727506..1752126hg38UCSC Ensembl
Innerchr1:1658945..1683565hg19UCSC Ensembl
Innerchr1:1648805..1673425hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3824621
hg1924621
hg1824621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42n54
Supporting Variantsnssv708634
Samples
Known GenesNADK, SLC35E2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545039
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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