A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547053



Internal ID16334462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611243..103618643hg38UCSC Ensembl
Innerchr1:104153865..104161265hg19UCSC Ensembl
Innerchr1:103955388..103962788hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg387401
hg197401
hg187401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415n54
Supporting Variantsnssv719974, nssv719963, nssv719971, nssv719960, nssv719967, nssv719955, nssv719961, nssv719973, nssv719968, nssv719966, nssv719976, nssv719977, nssv719958, nssv719969, nssv719959, nssv719970, nssv719956, nssv719978, nssv719964, nssv719962, nssv719972, nssv719975, nssv719965, nssv719957
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547053
Frequency
Sample Size17421
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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