A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004448



Internal ID19093666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103615675..103725588hg38UCSC Ensembl
Innerchr1:104158297..104268210hg19UCSC Ensembl
Innerchr1:103959820..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38109914
hg19109914
hg18109914
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223n100
Supporting Variantsnssv3700729, nssv3468350, nssv3497893, nssv3494794, nssv3498255, nssv3482087, nssv3499663, nssv3480986, nssv3493218, nssv3487467, nssv3488669, nssv3495192, nssv3700733, nssv3501437, nssv3496307, nssv3480251, nssv3470347, nssv3482877, nssv3472607, nssv3485816, nssv3467547, nssv3475551, nssv3469380, nssv3469966, nssv3492374, nssv3497397, nssv3472897, nssv3486665, nssv3500021, nssv3500597, nssv3700739, nssv3488517, nssv3491007, nssv3700731, nssv3700736, nssv3700740, nssv3501530, nssv3500258, nssv3482514, nssv3463952, nssv3465518, nssv3700732, nssv3700735, nssv3490817, nssv3700734, nssv3488913, nssv3471420, nssv3473670, nssv3700738, nssv3700737, nssv3486062, nssv3700741, nssv3700730, nssv3465988, nssv3484178
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)nsv1004448
Frequency
Sample Size11257
Observed Gain12
Observed Loss43
Observed Complex0
Frequencyn/a


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