A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908375



Internal ID15855645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50786509..51326909hg38UCSC Ensembl
Innerchr2:51013647..51554047hg19UCSC Ensembl
Innerchr2:50867151..51407551hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38540401
hg19540401
hg18540401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581853
Supporting Variants
Samples
Known GenesNRXN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv908375
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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