A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545512



Internal ID16332921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12839881..12861255hg38UCSC Ensembl
Innerchr1:12899734..12921110hg19UCSC Ensembl
Innerchr1:12822321..12843697hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3821375
hg1921377
hg1821377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv131n54
Supporting Variantsnssv710176, nssv710167, nssv710169, nssv710166, nssv710173, nssv710182, nssv710170, nssv710177, nssv710178, nssv710174, nssv710168, nssv710172, nssv710175, nssv710180, nssv710171, nssv710179, nssv710181
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545512
Frequency
Sample Size17421
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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