A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580768



Internal ID18532363
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 StatusS
Merged Variantsnsv1008294
Supporting Variants
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)nssv3580768
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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