A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004173



Internal ID19093390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9266587..9342344hg38UCSC Ensembl
Innerchr1:9326646..9402403hg19UCSC Ensembl
Innerchr1:9249233..9324990hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3875758
hg1975758
hg1875758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n100
Supporting Variantsnssv3697880, nssv3697886, nssv3476882, nssv3467287, nssv3471951, nssv3697888, nssv3467145, nssv3697887, nssv3697885, nssv3475835, nssv3467926, nssv3480498, nssv3697879, nssv3697884, nssv3697881, nssv3470195, nssv3697883, nssv3697882, nssv3482738
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004173
Frequency
Sample Size11257
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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