A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999682



Internal ID18812532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16643949hg38UCSC Ensembl
Innerchr1:16871266..16970444hg19UCSC Ensembl
Innerchr1:16743853..16843031hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3899179
hg1999179
hg1899179
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47n100
Supporting Variantsnssv3698813, nssv3479551, nssv3479758, nssv3476920, nssv3474287, nssv3698814, nssv3698810, nssv3473813, nssv3698811, nssv3698812, nssv3478440, nssv3464307, nssv3467372, nssv3698818, nssv3476025, nssv3698815, nssv3469235, nssv3466386, nssv3465547, nssv3698817, nssv3698819, nssv3698816, nssv3478570, nssv3481537, nssv3469906, nssv3472197, nssv3698820, nssv3477170, nssv3466287, nssv3480481
Samples
Known GenesCROCCP2, MIR3675, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999682
Frequency
Sample Size29084
Observed Gain15
Observed Loss15
Observed Complex0
Frequencyn/a


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