A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517222



Internal ID15444515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4243071..4252642hg38UCSC Ensembl
Innerchr2:4290661..4300232hg19UCSC Ensembl
Innerchr2:4268536..4278107hg18UCSC Ensembl
Innerchr2:3784030..3793601hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg389572
hg199572
hg189572
hg179572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv208n21
Supporting Variantsnssv698427, nssv669624, nssv657666, nssv679780, nssv668314, nssv683342, nssv661148, nssv683192, nssv674636, nssv681836, nssv685777, nssv663675, nssv669804, nssv669559, nssv682267, nssv693571, nssv693436, nssv673405, nssv675731, nssv668943, nssv700719, nssv678599, nssv658414, nssv684805, nssv690310, nssv680374, nssv670206, nssv682659, nssv692330, nssv664288, nssv654056, nssv652345, nssv666130, nssv670884, nssv669154, nssv693637, nssv655064, nssv665868, nssv667710, nssv677376, nssv658051, nssv680972, nssv670800, nssv657078, nssv690132, nssv672792, nssv687405, nssv676010, nssv657817, nssv676234, nssv689093, nssv668731
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517222
Frequency
Sample Size2026
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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