A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977224



Internal ID18612430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30296258..30296887hg38UCSC Ensembl
Innerchr13:30870395..30871024hg19UCSC Ensembl
Innerchr13:29768395..29769024hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1957649, nssv1957648, nssv1957656, nssv1957652, nssv1957647, nssv1957654, nssv1957650, nssv1957655, nssv1957653, nssv1957651
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKATNAL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977224
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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