A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517392



Internal ID15097999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34468026..34506197hg38UCSC Ensembl
Innerchr19:34958931..34997102hg19UCSC Ensembl
Innerchr19:39650771..39688942hg18UCSC Ensembl
Innerchr19:39650771..39688942hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3838172
hg1938172
hg1838172
hg1738172
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701942, nssv691453, nssv705648, nssv693878, nssv666515, nssv676859, nssv687152, nssv654999, nssv660179, nssv662468, nssv671207, nssv687936, nssv692848, nssv651884, nssv664610, nssv675699, nssv692752, nssv660436, nssv679777, nssv677945, nssv684527, nssv672764, nssv656948, nssv663576, nssv661537
Samples
Known GenesUBA2, WTIP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517392
Frequency
Sample Size2026
Observed Gain1
Observed Loss24
Observed Complex0
Frequencyn/a


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