A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004997



Internal ID19094214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:220175425..220202970hg38UCSC Ensembl
Innerchr2:221040146..221067691hg19UCSC Ensembl
Innerchr2:220748390..220775935hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3827546
hg1927546
hg1827546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4176n100
Supporting Variantsnssv3729357
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)nsv1004997
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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