A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174045



Internal ID15509235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215880744..215893095hg38UCSC Ensembl
Innerchr1:216054086..216066437hg19UCSC Ensembl
Innerchr1:214120709..214133060hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3812352
hg1912352
hg1812352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549193
Supporting Variants
Samples1798860114_A
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1174045
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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