A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3748315



Internal ID19046596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104152284..104254064hg38UCSC Ensembl
Innerchr5:103487985..103589765hg19UCSC Ensembl
Innerchr5:103515884..103617664hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38101781
hg19101781
hg18101781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033485
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3748315
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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