A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746635



Internal ID18698230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126209971..126501350hg38UCSC Ensembl
Innerchr5:125545664..125837042hg19UCSC Ensembl
Innerchr5:125573563..125864941hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38291380
hg19291379
hg18291379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016666
Supporting Variants
Samples
Known GenesGRAMD3, LOC101927488
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3746635
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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