A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3508471



Internal ID18460066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22470636..22513887hg38UCSC Ensembl
Innerchr12:22623570..22666821hg19UCSC Ensembl
Innerchr12:22514837..22558088hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3843252
hg1943252
hg1843252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038357
Supporting Variants
Samples
Known GenesC2CD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3508471
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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