A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3674267



Internal ID18625862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:151946824..152195828hg38UCSC Ensembl
Innerchr7:151643909..151892913hg19UCSC Ensembl
Innerchr7:151274842..151523846hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38249005
hg19249005
hg18249005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020487
Supporting Variants
Samples
Known GenesGALNT11, GALNTL5, KMT2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3674267
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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