A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517175



Internal ID15444468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101317269..101495005hg38UCSC Ensembl
Innerchr7:100960550..101138286hg19UCSC Ensembl
Innerchr7:100747270..100925006hg18UCSC Ensembl
Innerchr7:100553985..100731721hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38177737
hg19177737
hg18177737
hg17177737
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690355, nssv674619, nssv699013, nssv655821, nssv664223, nssv672877, nssv683845, nssv676672, nssv654834, nssv669413, nssv682120, nssv674463, nssv684187, nssv682947, nssv678637, nssv653929, nssv657484
Samples
Known GenesCOL26A1, RABL5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517175
Frequency
Sample Size2026
Observed Gain13
Observed Loss4
Observed Complex0
Frequencyn/a


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