A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3701227



Internal ID18652822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52030594..52087736hg38UCSC Ensembl
Innerchr1:52496266..52553408hg19UCSC Ensembl
Innerchr1:52268854..52325996hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3857143
hg1957143
hg1857143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004103
Supporting Variants
Samples
Known GenesBTF3L4, KTI12, TXNDC12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3701227
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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