A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999369



Internal ID18812219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16721689..16949734hg38UCSC Ensembl
Innerchr1:17048184..17276229hg19UCSC Ensembl
Innerchr1:16920771..17148816hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38228046
hg19228046
hg18228046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3467168, nssv3470892, nssv3467121, nssv3463318
Samples
Known GenesCROCC, LOC729574, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999369
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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