A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3700708



Internal ID18652303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614527..103697055hg38UCSC Ensembl
Innerchr1:104157149..104239677hg19UCSC Ensembl
Innerchr1:103958672..104041200hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3882529
hg1982529
hg1882529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006169
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3700708
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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