A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3497233



Internal ID19084874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117492848..117533905hg38UCSC Ensembl
Innerchr1:118035470..118076527hg19UCSC Ensembl
Innerchr1:117836993..117878050hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3841058
hg1941058
hg1841058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013425
Supporting Variants
Samples
Known GenesMAN1A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3497233
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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