A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022212



Internal ID19111430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:112222338..112365554hg38UCSC Ensembl
Innerchr6:112543539..112686756hg19UCSC Ensembl
Innerchr6:112650232..112793449hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38143217
hg19143218
hg18143218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654299
Samples
Known GenesLAMA4, RFPL4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022212
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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