A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001395



Internal ID18743926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16788205hg38UCSC Ensembl
Innerchr1:16886123..17114700hg19UCSC Ensembl
Innerchr1:16758710..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38228578
hg19228578
hg18228578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n100
Supporting Variantsnssv3470902, nssv3463317
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)nsv1001395
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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