A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006409



Internal ID18748940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1301750..1362354hg38UCSC Ensembl
Innerchr1:1237130..1297734hg19UCSC Ensembl
Innerchr1:1226993..1287597hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3860605
hg1960605
hg1860605
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6n100
Supporting Variantsnssv3481304, nssv3474904, nssv3696753
Samples
Known GenesACAP3, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, MXRA8, PUSL1, TAS1R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006409
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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