A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv713077



Internal ID16007033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53078617..53088030hg38UCSC Ensembl
Innerchr1:53544289..53553702hg19UCSC Ensembl
Innerchr1:53316877..53326290hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg389414
hg199414
hg189414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546239
Supporting Variants
Samples
Known GenesPODN, SLC1A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv713077
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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