A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547712



Internal ID15988435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143716839hg38UCSC Ensembl
Innerchr1:149039120..149211496hg19UCSC Ensembl
Innerchr1:147305744..147478120hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38172387
hg19172377
hg18172377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539n54
Supporting Variantsnssv1173169, nssv1173168, nssv723198, nssv1173165, nssv1173163, nssv1173164, nssv1173166, nssv723199, nssv1173167
SamplesHGDP00772, HGDP00881, HGDP01242, HGDP00607, HGDP01096, HGDP00720, HGDP00045
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547712
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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