A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689128



Internal ID15079094
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516958
Supporting Variants
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)nssv689128
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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