A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3473109



Internal ID18718619
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003927
Supporting Variants
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)nssv3473109
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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