A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500291



Internal ID18741246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103635404..103718572hg38UCSC Ensembl
Innerchr1:104178026..104261194hg19UCSC Ensembl
Innerchr1:103979549..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3883169
hg1983169
hg1883169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009989
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500291
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