A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723274



Internal ID16017230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143550435..143594419hg38UCSC Ensembl
Innerchr1:149045105..149089078hg19UCSC Ensembl
Innerchr1:147311729..147355702hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3843985
hg1943974
hg1843974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547737
Supporting Variants
Samples
Known GenesLOC101929780
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723274
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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