A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945999



Internal ID18592849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75581571..75582791hg38UCSC Ensembl
Innerchr1:76047256..76048476hg19UCSC Ensembl
Innerchr1:75819844..75821064hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381221
hg191221
hg181221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770640, nssv1770634, nssv1770636, nssv1770638, nssv1770631, nssv1770635, nssv1770632, nssv1770637, nssv1770639, nssv1770633
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC44A5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945999
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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