A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648161



Internal ID18599756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147980958..148104451hg38UCSC Ensembl
Innerchr5:147360521..147484014hg19UCSC Ensembl
Innerchr5:147340714..147464207hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38123494
hg19123494
hg18123494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033838
Supporting Variants
Samples
Known GenesSPINK5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648161
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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