A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010727



Internal ID19099944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16660344hg38UCSC Ensembl
Innerchr1:16871266..16986839hg19UCSC Ensembl
Innerchr1:16743853..16859426hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38115574
hg19115574
hg18115574
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n100
Supporting Variantsnssv3470325, nssv3476504, nssv3481406, nssv3698827, nssv3477090, nssv3471813, nssv3470947, nssv3464417, nssv3471125, nssv3478221, nssv3473804, nssv3470413, nssv3474483, nssv3475483, nssv3464997, nssv3473635, nssv3476264, nssv3482376, nssv3475827, nssv3698826, nssv3477894, nssv3469971, nssv3474688, nssv3474165, nssv3470476, nssv3464539, nssv3464103, nssv3698823, nssv3478222, nssv3479037, nssv3478909, nssv3466225, nssv3463248, nssv3698828, nssv3698822, nssv3467851, nssv3463932, nssv3479073, nssv3481436, nssv3480596, nssv3474782, nssv3470795, nssv3476902, nssv3476227, nssv3475556, nssv3473629, nssv3465955, nssv3473657, nssv3467555, nssv3481319, nssv3475818, nssv3465306, nssv3478156, nssv3472429, nssv3466937, nssv3698824, nssv3698821, nssv3698825
Samples
Known GenesCROCCP2, MIR3675, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010727
Frequency
Sample Size11257
Observed Gain50
Observed Loss8
Observed Complex0
Frequencyn/a


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