A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648132



Internal ID18946413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:137180158..137256521hg38UCSC Ensembl
Innerchr5:136515847..136592210hg19UCSC Ensembl
Innerchr5:136543746..136620109hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3876364
hg1976364
hg1876364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015658
Supporting Variants
Samples
Known GenesSPOCK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648132
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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