A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517271



Internal ID15444564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131003496..131381745hg38UCSC Ensembl
Innerchr12:131488041..131866290hg19UCSC Ensembl
Innerchr12:130053994..130432243hg18UCSC Ensembl
Innerchr12:130012921..130391170hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38378250
hg19378250
hg18378250
hg17378250
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658207, nssv684193, nssv670383, nssv689967, nssv684298, nssv657412, nssv663067, nssv692914, nssv676231, nssv654172, nssv673667, nssv690812, nssv679977, nssv684613, nssv662354, nssv658143, nssv659494, nssv671467, nssv654439, nssv686548, nssv683257, nssv660451, nssv680764, nssv687319, nssv678469, nssv677891, nssv691721, nssv669995, nssv695689, nssv682514, nssv664230, nssv666204, nssv690560, nssv654689, nssv684269, nssv651771, nssv686673, nssv675208, nssv675292, nssv682589, nssv677981, nssv674585
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517271
Frequency
Sample Size2026
Observed Gain3
Observed Loss39
Observed Complex0
Frequencyn/a


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