A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000137



Internal ID18742668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103573715..103697055hg38UCSC Ensembl
Innerchr1:104116337..104239677hg19UCSC Ensembl
Innerchr1:103917860..104041200hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38123341
hg19123341
hg18123341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217n100
Supporting Variantsnssv3466852, nssv3699710
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000137
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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