A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2477174



Internal ID17836022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128616246..128660222hg38UCSC Ensembl
Innerchr7:128256300..128300276hg19UCSC Ensembl
Innerchr7:128043536..128087512hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3843977
hg1943977
hg1843977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970938
Supporting Variants
SamplesHGDP00998
Known GenesLINC01000
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2477174
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