A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946735



Internal ID18593585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145196312..145239539hg38UCSC Ensembl
Innerchr1:144321218..144361447hg19UCSC Ensembl
Innerchr1:143032575..143072804hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3843228
hg1940230
hg1840230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2581187, nssv2581179, nssv2581185, nssv2581182, nssv2581178, nssv2581184, nssv2581186, nssv2581183, nssv2581180, nssv2581181
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC00623, LOC100288142, LOC728875
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946735
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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