A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2462250



Internal ID17427091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74746310..74870875hg38UCSC Ensembl
Innerchr7:74160649..74286969hg19UCSC Ensembl
Innerchr7:73798585..73924905hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38124566
hg19126321
hg18126321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970532
Supporting Variants
SamplesHGDP00542
Known GenesGTF2I, GTF2IRD2, NCF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2462250
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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