A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548349



Internal ID16335758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180781345..180786185hg38UCSC Ensembl
Innerchr1:180750481..180755321hg19UCSC Ensembl
Innerchr1:179017104..179021944hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384841
hg194841
hg184841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv657n54
Supporting Variantsnssv729718, nssv729704, nssv729710, nssv729712, nssv729699, nssv729701, nssv729698, nssv729715, nssv729716, nssv729708, nssv729705, nssv729714, nssv729706, nssv729711, nssv729717, nssv729700, nssv729707, nssv729702, nssv729709, nssv729703, nssv729697, nssv729713, nssv729696
Samples
Known GenesXPR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548349
Frequency
Sample Size17421
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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