A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970449



Internal ID18258985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:18944055..18950446hg38UCSC Ensembl
Innerchr7:18983678..18990069hg19UCSC Ensembl
Innerchr7:18950203..18956594hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg386392
hg196392
hg186392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2437921, nssv2437918, nssv2437915, nssv2437923, nssv2437924, nssv2437917, nssv2437916, nssv2437922, nssv2437919, nssv2437920
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHDAC9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970449
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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