A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517675



Internal ID15444968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4253892..4381985hg38UCSC Ensembl
Innerchr7:4293524..4421616hg19UCSC Ensembl
Innerchr7:4260050..4388142hg18UCSC Ensembl
Innerchr7:4066765..4194857hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38128094
hg19128093
hg18128093
hg17128093
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655575, nssv687462, nssv684657, nssv659546, nssv673809, nssv679744, nssv705908, nssv671729, nssv662287, nssv670109, nssv693175, nssv698108, nssv671159, nssv691403, nssv652790, nssv660423, nssv692567, nssv691131, nssv690745, nssv669204, nssv668065, nssv690420, nssv667162, nssv672337, nssv705089
Samples
Known GenesSDK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517675
Frequency
Sample Size2026
Observed Gain5
Observed Loss20
Observed Complex0
Frequencyn/a


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