A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002208



Internal ID19091425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141409668..141477739hg38UCSC Ensembl
Innerchr2:142167237..142235308hg19UCSC Ensembl
Innerchr2:141883707..141951778hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3868072
hg1968072
hg1868072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4084n100
Supporting Variantsnssv3729244
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)nsv1002208
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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