A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3697976



Internal ID18649571
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 StatusS
Merged Variantsnsv1005421
Supporting Variants
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)nssv3697976
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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