A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525444



Internal ID15106051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178693726..178918428hg38UCSC Ensembl
Innerchr1:178662861..178887563hg19UCSC Ensembl
Innerchr1:176929484..177154186hg18UCSC Ensembl
Innerchr1:175394518..175619220hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38224703
hg19224703
hg18224703
hg17224703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701572
Samples
Known GenesANGPTL1, RALGPS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525444
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