A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013208



Internal ID18755739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16518425..16721972hg38UCSC Ensembl
Innerchr1:16844920..17048467hg19UCSC Ensembl
Innerchr1:16717507..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38203548
hg19203548
hg18203548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41n100
Supporting Variantsnssv3481717, nssv3467805, nssv3471350, nssv3464380
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)nsv1013208
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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