A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945902



Internal ID18246066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42412295..42414555hg38UCSC Ensembl
Innerchr1:42877966..42880226hg19UCSC Ensembl
Innerchr1:42650553..42652813hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382261
hg192261
hg182261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1761192, nssv1761201, nssv1761200, nssv1761199, nssv1761194, nssv1761197, nssv1761196, nssv1761198, nssv1761193, nssv1761195
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRIMKLA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945902
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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