A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2567429



Internal ID17876603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125262499..125264095hg38UCSC Ensembl
Innerchr9:128024778..128026374hg19UCSC Ensembl
Innerchr9:127064599..127066195hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381597
hg191597
hg181597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968753
Supporting Variants
SamplesHGDP01307
Known GenesGAPVD1
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)nssv2567429
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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