A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030571



Internal ID19119790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30162047..30187724hg38UCSC Ensembl
Innerchr7:30201663..30227340hg19UCSC Ensembl
Innerchr7:30168188..30193865hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3825678
hg1925678
hg1825678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643349
Samples
Known GenesMTURN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030571
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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