A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012642



Internal ID18755174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16888315hg38UCSC Ensembl
Innerchr1:16886123..17214810hg19UCSC Ensembl
Innerchr1:16758710..17087397hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38328688
hg19328688
hg18328688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n100
Supporting Variantsnssv3698862
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)nsv1012642
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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