A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008294



Internal ID18750825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127537744..127663080hg38UCSC Ensembl
Innerchr2:128295320..128420654hg19UCSC Ensembl
Innerchr2:128011790..128137124hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38125337
hg19125335
hg18125335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4068n100
Supporting Variantsnssv3580767, nssv3580764, nssv3580765, nssv3580768, nssv3580766
Samples
Known GenesGPR17, LIMS2, MYO7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008294
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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