A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517200



Internal ID15097807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122827504..123169951hg38UCSC Ensembl
Innerchr12:123312051..123654498hg19UCSC Ensembl
Innerchr12:121878004..122220451hg18UCSC Ensembl
Innerchr12:121836931..122179378hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38342448
hg19342448
hg18342448
hg17342448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673986, nssv691449, nssv657836, nssv692845, nssv663538, nssv653995, nssv672586, nssv656201, nssv698769, nssv668488, nssv673842, nssv702811, nssv661596, nssv685660, nssv651670, nssv693398, nssv687393, nssv694009, nssv667421, nssv656945, nssv668720, nssv688327, nssv652166, nssv683684, nssv667934, nssv669422, nssv674525, nssv661066, nssv669548, nssv681711, nssv655520, nssv659265, nssv678468, nssv672825, nssv659493, nssv663666, nssv684591, nssv700220, nssv654990, nssv691747, nssv660171, nssv685197, nssv701966, nssv665382, nssv652303
Samples
Known GenesABCB9, ARL6IP4, HIP1R, LOC100507091, MIR4304, MPHOSPH9, OGFOD2, PITPNM2, VPS37B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517200
Frequency
Sample Size2026
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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