A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014096



Internal ID19103316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103718572hg38UCSC Ensembl
Innerchr1:104155790..104261194hg19UCSC Ensembl
Innerchr1:103957313..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38105405
hg19105405
hg18105405
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223n100
Supporting Variantsnssv3468501, nssv3480965, nssv3476370, nssv3470559, nssv3476690, nssv3700671, nssv3479161, nssv3466009, nssv3473859, nssv3473125
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)nsv1014096
Frequency
Sample Size11257
Observed Gain4
Observed Loss6
Observed Complex0
Frequencyn/a


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