A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015688



Internal ID18758222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105209323..105542551hg38UCSC Ensembl
Innerchr7:104849770..105182998hg19UCSC Ensembl
Innerchr7:104637006..104970234hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38333229
hg19333229
hg18333229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6547n100
Supporting Variantsnssv3755477
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)nsv1015688
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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