A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015032



Internal ID18757567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:175934311..176018742hg38UCSC Ensembl
Innerchr2:176799039..176883470hg19UCSC Ensembl
Innerchr2:176507285..176591716hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3884432
hg1984432
hg1884432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583039
Samples
Known GenesKIAA1715
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015032
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