A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173169



Internal ID15532006
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 StatusS
Merged Variantsnsv547712
Supporting Variants
SamplesHGDP01242
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173169
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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