A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968753



Internal ID18603981
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 StatusM
Merged Variants
Supporting Variantsnssv2567437, nssv2567436, nssv2567431, nssv2567430, nssv2567433, nssv2567429, nssv2567434, nssv2567438, nssv2567432, nssv2567435
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGAPVD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968753
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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