A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3474998



Internal ID18719582
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 StatusS
Merged Variantsnsv998387
Supporting Variants
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)nssv3474998
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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