A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970535



Internal ID18259071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75218246..75221527hg38UCSC Ensembl
Innerchr7:74633963..74637245hg19UCSC Ensembl
Innerchr7:74271899..74275181hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383282
hg193283
hg183283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2464140, nssv2464139, nssv2464136, nssv2464133, nssv2464132, nssv2464135, nssv2464138, nssv2464134, nssv2464131, nssv2464137
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970535
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