A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012123



Internal ID19101341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148320931..148393789hg38UCSC Ensembl
Innerchr2:149078500..149151358hg19UCSC Ensembl
Innerchr2:148794970..148867828hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3872859
hg1972859
hg1872859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582955
Samples
Known GenesMBD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012123
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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