A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597887



Internal ID16038610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42627250..42630813hg38UCSC Ensembl
Innerchr5:42627352..42630915hg19UCSC Ensembl
Innerchr5:42663109..42666672hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383564
hg193564
hg183564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029142
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597887
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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