A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000273



Internal ID19089490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678997..103725588hg38UCSC Ensembl
Innerchr1:104221619..104268210hg19UCSC Ensembl
Innerchr1:104023142..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3846592
hg1946592
hg1846592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv228n100
Supporting Variantsnssv3484859, nssv3500443, nssv3485678, nssv3496018
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)nsv1000273
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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