A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044075



Internal ID19133294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27318256..27417672hg38UCSC Ensembl
Innerchr10:27607185..27706601hg19UCSC Ensembl
Innerchr10:27647191..27746607hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3899417
hg1999417
hg1899417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696n100
Supporting Variantsnssv3509493, nssv3503831, nssv3514986, nssv3504222, nssv3507379, nssv3509693, nssv3521628, nssv3513241, nssv3518181, nssv3707744, nssv3518587, nssv3506762, nssv3707742, nssv3508731, nssv3516001, nssv3522644, nssv3520158, nssv3506253, nssv3512039, nssv3514836, nssv3522130, nssv3707743, nssv3514106
Samples
Known GenesPTCHD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044075
Frequency
Sample Size11257
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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