A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580708



Internal ID18878989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123242116..123390481hg38UCSC Ensembl
Innerchr2:123999692..124148057hg19UCSC Ensembl
Innerchr2:123716162..123864527hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38148366
hg19148366
hg18148366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007072
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)nssv3580708
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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