A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2716736



Internal ID17844639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75356978..75380459hg38UCSC Ensembl
Innerchr7:74986218..75009736hg19UCSC Ensembl
Innerchr7:74824154..74847672hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3823482
hg1923519
hg1823519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967341
Supporting Variants
SamplesHGDP01029
Known GenesPMS2P5, STAG3L1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2716736
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