A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004431



Internal ID19093649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148101530..148296545hg38UCSC Ensembl
Innerchr2:148859099..149054114hg19UCSC Ensembl
Innerchr2:148575569..148770584hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38195016
hg19195016
hg18195016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582949
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)nsv1004431
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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