A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946537



Internal ID18593387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183201220..183202635hg38UCSC Ensembl
Innerchr1:183170355..183171770hg19UCSC Ensembl
Innerchr1:181436978..181438393hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1810022, nssv1810016, nssv1810015, nssv1810014, nssv1810018, nssv1810019, nssv1810013, nssv1810021, nssv1810017, nssv1810020
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLAMC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946537
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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