A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998387



Internal ID18811237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16721972hg38UCSC Ensembl
Innerchr1:16886123..17048467hg19UCSC Ensembl
Innerchr1:16758710..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38162345
hg19162345
hg18162345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n100
Supporting Variantsnssv3479011, nssv3464645, nssv3478124, nssv3474998
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, 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)nsv998387
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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