A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003878



Internal ID18746409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16679471hg38UCSC Ensembl
Innerchr1:16871266..17005966hg19UCSC Ensembl
Innerchr1:16743853..16878553hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38134701
hg19134701
hg18134701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n100
Supporting Variantsnssv3698835, nssv3698833, nssv3470164, nssv3698834, nssv3466388, nssv3474311, nssv3478035
Samples
Known GenesCROCCP2, LOC729574, 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)nsv1003878
Frequency
Sample Size29084
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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