A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516044



Internal ID15096651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95485211..96017630hg38UCSC Ensembl
Innerchr2:96150959..96683378hg19UCSC Ensembl
Innerchr2:95514686..96047105hg18UCSC Ensembl
Innerchr2:95572833..96105252hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38532420
hg19532420
hg18532420
hg17532420
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704059, nssv677534, nssv665872, nssv697124
Samples
Known GenesFAHD2CP, LINC00342, TRIM43
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516044
Frequency
Sample Size2026
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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