A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004207



Internal ID19093424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141927243..141984084hg38UCSC Ensembl
Innerchr2:142684812..142741653hg19UCSC Ensembl
Innerchr2:142401282..142458123hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3856842
hg1956842
hg1856842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729246
Samples
Known GenesLRP1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004207
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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