A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3674270



Internal ID18625865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152089940..152305071hg38UCSC Ensembl
Innerchr7:151787025..152002156hg19UCSC Ensembl
Innerchr7:151417958..151633089hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38215132
hg19215132
hg18215132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025281
Supporting Variants
Samples
Known GenesGALNT11, KMT2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3674270
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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