A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981524



Internal ID18270035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73156302..73174453hg38UCSC Ensembl
Innerchr7:72570388..72588493hg19UCSC Ensembl
Innerchr7:72208324..72226429hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3818152
hg1918106
hg1818106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2463922, nssv2463926, nssv2463923, nssv2463927, nssv2463931, nssv2463925, nssv2463929, nssv2463928, nssv2463930, nssv2463924
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981524
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer