A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547711



Internal ID16335120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143707338hg38UCSC Ensembl
Innerchr1:149039120..149201987hg19UCSC Ensembl
Innerchr1:147305744..147468611hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38162886
hg19162868
hg18162868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n54
Supporting Variantsnssv1173159, nssv1173158, nssv1173155, nssv1173153, nssv1173154, nssv1173156, nssv1173162, nssv1173161, nssv723197, nssv1173160, nssv1173157
SamplesHGDP00768, HGDP01375, HGDP00612, HGDP00458, HGDP00033, HGDP00718, HGDP00530, HGDP00615, HGDP00007, HGDP00983
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547711
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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