A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597903



Internal ID16038626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42629071..42630696hg38UCSC Ensembl
Innerchr5:42629173..42630798hg19UCSC Ensembl
Innerchr5:42664930..42666555hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381626
hg191626
hg181626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9734n54
Supporting Variantsnssv1029341
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597903
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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