A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3463430



Internal ID18713475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72379872..74933684hg38UCSC Ensembl
Innerchr1:72845555..75399368hg19UCSC Ensembl
Innerchr1:72618143..75171956hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382553813
hg192553814
hg182553814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002115
Supporting Variants
Samples
Known GenesC1orf173, CRYZ, FPGT, FPGT-TNNI3K, LRRIQ3, TNNI3K, TYW3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3463430
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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