A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023564



Internal ID19112781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105378037..105542551hg38UCSC Ensembl
Innerchr7:105018484..105182998hg19UCSC Ensembl
Innerchr7:104805720..104970234hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38164515
hg19164515
hg18164515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656211, nssv3656210
Samples
Known GenesPUS7, RINT1, SRPK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023564
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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