A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997489



Internal ID19157025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167168492..167215737hg38UCSC Ensembl
Innerchr2:168025002..168072247hg19UCSC Ensembl
Innerchr2:167733248..167780493hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3847246
hg1947246
hg1847246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4100n100
Supporting Variantsnssv3729269
Samples
Known GenesXIRP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997489
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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