A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3643249



Internal ID18594844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19232737..19969258hg38UCSC Ensembl
Innerchr7:19272360..20008881hg19UCSC Ensembl
Innerchr7:19238885..19975406hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38736522
hg19736522
hg18736522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018601
Supporting Variants
Samples
Known GenesMIR3146, TMEM196, TWISTNB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3643249
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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