A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516644



Internal ID15443937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133543559..133633643hg38UCSC Ensembl
Innerchr2:134301130..134391214hg19UCSC Ensembl
Innerchr2:134017600..134107684hg18UCSC Ensembl
Innerchr2:134134862..134224946hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3890085
hg1990085
hg1890085
hg1790085
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv669832, nssv700669, nssv679002
Samples
Known GenesNCKAP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516644
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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