A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697575



Internal ID15087541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162217722..162221622hg38UCSC Ensembl
Innerchr1:162187512..162191412hg19UCSC Ensembl
Innerchr1:160454136..160458036hg18UCSC Ensembl
Innerchr1:158919170..158923070hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383901
hg193901
hg183901
hg173901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516482
Supporting Variants
Samples
Known GenesNOS1AP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697575
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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