A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598535



Internal ID16039258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70402462..70688230hg38UCSC Ensembl
Innerchr5:69698289..69984057hg19UCSC Ensembl
Innerchr5:69734045..70019813hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38285769
hg19285769
hg18285769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034917
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SMA4, SMA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598535
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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