A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516942



Internal ID15444235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147640650..147657839hg38UCSC Ensembl
Innerchr7:147337742..147354931hg19UCSC Ensembl
Innerchr7:146968675..146985864hg18UCSC Ensembl
Innerchr7:146775390..146792579hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3817190
hg1917190
hg1817190
hg1717190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv434n21
Supporting Variantsnssv660219, nssv692226, nssv655072, nssv660257
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516942
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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