A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712567



Internal ID15659837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39719061..39841226hg38UCSC Ensembl
Innerchr1:40184733..40306898hg19UCSC Ensembl
Innerchr1:39957320..40079485hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38122166
hg19122166
hg18122166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546063
Supporting Variants
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712567
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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