A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516958



Internal ID15097565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87203604..88000325hg38UCSC Ensembl
Innerchr2:87430727..88299844hg19UCSC Ensembl
Innerchr2:87284238..88080959hg18UCSC Ensembl
Innerchr2:87342385..88139106hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38796722
hg19869118
hg18796722
hg17796722
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689128, nssv661587, nssv679431, nssv684423, nssv653508, nssv694014, nssv681085
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2, PLGLB1, PLGLB2, RGPD1, RGPD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516958
Frequency
Sample Size2026
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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