A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005835



Internal ID19095052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:242016010..242147293hg38UCSC Ensembl
Innerchr2:242958161..243089444hg19UCSC Ensembl
Innerchr2:242606834..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38131284
hg19131284
hg18131284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4206n100
Supporting Variantsnssv3589843, nssv3589842
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005835
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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