A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547665



Internal ID15988388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145809105hg38UCSC Ensembl
Innerchr1:145625979..145747463hg19UCSC Ensembl
Innerchr1:144337336..144458820hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38121504
hg19121485
hg18121485
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173138, nssv1173137, nssv723073, nssv723075, nssv723074
SamplesHGDP00993, NINDS_110
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547665
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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