A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000642



Internal ID18743173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178574139..178638484hg38UCSC Ensembl
Innerchr2:179438866..179503211hg19UCSC Ensembl
Innerchr2:179147112..179211456hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3864346
hg1964346
hg1864345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583085
Samples
Known GenesMIR548N, TTN, TTN-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000642
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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