A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007042



Internal ID18749573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1306835..1362354hg38UCSC Ensembl
Innerchr1:1242215..1297734hg19UCSC Ensembl
Innerchr1:1232078..1287597hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3855520
hg1955520
hg1855520
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6n100
Supporting Variantsnssv3470808, nssv3465374, nssv3463556, nssv3481506, nssv3474957, nssv3463395, nssv3470678, nssv3464986, nssv3480877, nssv3479291, nssv3477222, nssv3470985, nssv3474637, nssv3463276, nssv3477808, nssv3465184, nssv3465387, nssv3463612, nssv3465491, nssv3476407, nssv3470995, nssv3479867
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)nsv1007042
Frequency
Sample Size29084
Observed Gain2
Observed Loss20
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer