A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005421



Internal ID18747952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12823221hg38UCSC Ensembl
Innerchr1:12852748..12883084hg19UCSC Ensembl
Innerchr1:12775335..12805671hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3830623
hg1930337
hg1830337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32n100
Supporting Variantsnssv3475477, nssv3472077, nssv3476308, nssv3697976, nssv3482342, nssv3464123, nssv3479745, nssv3465667, nssv3697977
Samples
Known GenesPRAMEF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005421
Frequency
Sample Size29084
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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