A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597900



Internal ID16038623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42629012..42630813hg38UCSC Ensembl
Innerchr5:42629114..42630915hg19UCSC Ensembl
Innerchr5:42664871..42666672hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381802
hg191802
hg181802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9734n54
Supporting Variantsnssv1029336, nssv1029337
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597900
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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