A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv708528



Internal ID16002484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1290683..1305643hg38UCSC Ensembl
Innerchr1:1226063..1241023hg19UCSC Ensembl
Innerchr1:1215926..1230886hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3814961
hg1914961
hg1814961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv544967
Supporting Variants
Samples
Known GenesACAP3, MIR6726, SCNN1D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv708528
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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