A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021343



Internal ID19110560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56740039..57016413hg38UCSC Ensembl
Innerchr7:56807732..57084120hg19UCSC Ensembl
Innerchr7:56775226..57088062hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38276375
hg19276389
hg18312837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6366n100
Supporting Variantsnssv3661466, nssv3661469, nssv3661474, nssv3661467, nssv3661476, nssv3661472, nssv3661473, nssv3661464, nssv3661470, nssv3661471, nssv3661468, nssv3661475, nssv3661465
Samples
Known GenesLOC100130849, MIR4283-1, MIR4283-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021343
Frequency
Sample Size11257
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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