A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945953



Internal ID18246117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52994822..52995928hg38UCSC Ensembl
Innerchr1:53460494..53461600hg19UCSC Ensembl
Innerchr1:53233082..53234188hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381107
hg191107
hg181107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1767913, nssv1767910, nssv1767916, nssv1767914, nssv1767912, nssv1767911, nssv1767918, nssv1767915, nssv1767917, nssv1767919
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSCP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945953
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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