A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597897



Internal ID16038620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42628901..42630813hg38UCSC Ensembl
Innerchr5:42629003..42630915hg19UCSC Ensembl
Innerchr5:42664760..42666672hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381913
hg191913
hg181913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9734n54
Supporting Variantsnssv1029331, nssv1029332, nssv1029329, nssv1029330, nssv1029333
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597897
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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