A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173817



Internal ID15508479
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
Samples1780862460_A
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)nssv1173817
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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