A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002598



Internal ID18745130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87051761..87747090hg38UCSC Ensembl
Innerchr2:87278884..88046609hg19UCSC Ensembl
Innerchr2:87132395..87827724hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38695330
hg19767726
hg18695330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3889n100
Supporting Variantsnssv3582180
Samples
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002598
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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