A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034175



Internal ID18776709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:41864116..42018888hg38UCSC Ensembl
Innerchr7:41903714..42058487hg19UCSC Ensembl
Innerchr7:41870239..42025012hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38154773
hg19154774
hg18154774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3752955
Samples
Known GenesGLI3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034175
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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