A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003927



Internal ID18746458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16756084hg38UCSC Ensembl
Innerchr1:16886123..17082579hg19UCSC Ensembl
Innerchr1:16758710..16955166hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38196457
hg19196457
hg18196457
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv52n100
Supporting Variantsnssv3473109, nssv3467037, nssv3698859
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, 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)nsv1003927
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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