A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009203



Internal ID18751734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103682934hg38UCSC Ensembl
Innerchr1:104155790..104225556hg19UCSC Ensembl
Innerchr1:103957313..104027079hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3869767
hg1969767
hg1869767
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv221n100
Supporting Variantsnssv3480623, nssv3699718, nssv3471053, nssv3699716, nssv3468623, nssv3482144, nssv3469471, nssv3699714, nssv3699717, nssv3473673, nssv3468248, nssv3478096, nssv3478490, nssv3699713, nssv3479739, nssv3465906, nssv3699715, nssv3468372, nssv3468900, nssv3467715, nssv3468565, nssv3473919
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)nsv1009203
Frequency
Sample Size29084
Observed Gain7
Observed Loss15
Observed Complex0
Frequencyn/a


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