A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011937



Internal ID18754473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127537744..127648346hg38UCSC Ensembl
Innerchr2:128295320..128405921hg19UCSC Ensembl
Innerchr2:128011790..128122391hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38110603
hg19110602
hg18110602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4068n100
Supporting Variantsnssv3580762, nssv3580763
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)nsv1011937
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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