A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978494



Internal ID18267013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27466314..27468682hg38UCSC Ensembl
Innerchr17:25793340..25795708hg19UCSC Ensembl
Innerchr17:22817467..22819835hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg382369
hg192369
hg182369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2655672, nssv2655666, nssv2655671, nssv2655668, nssv2655670, nssv2655665, nssv2655667, nssv2655673, nssv2655664, nssv2655669
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978494
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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