A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3470973



Internal ID18717521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16684943..16934586hg38UCSC Ensembl
Innerchr1:17011438..17261081hg19UCSC Ensembl
Innerchr1:16884025..17133668hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38249644
hg19249644
hg18249644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010977
Supporting Variants
Samples
Known GenesCROCC, ESPNP, 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)nssv3470973
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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