A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007207



Internal ID18749738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127537744..127672201hg38UCSC Ensembl
Innerchr2:128295320..128429775hg19UCSC Ensembl
Innerchr2:128011790..128146245hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38134458
hg19134456
hg18134456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4068n100
Supporting Variantsnssv3729226, nssv3580770, nssv3580769
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)nsv1007207
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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