A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723268



Internal ID15670538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143545399..143692365hg38UCSC Ensembl
Innerchr1:149040066..149187016hg19UCSC Ensembl
Innerchr1:147306690..147453640hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38146967
hg19146951
hg18146951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547731
Supporting Variants
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723268
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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