A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600004



Internal ID16040727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151048634..151059427hg38UCSC Ensembl
Innerchr5:150428195..150438988hg19UCSC Ensembl
Innerchr5:150408388..150419181hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3810794
hg1910794
hg1810794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153372
Samples1780854097_A
Known GenesTNIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600004
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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