A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2034737



Internal ID17755342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:83041978..83045878hg38UCSC Ensembl
Innerchr15:83710730..83714630hg19UCSC Ensembl
Innerchr15:81501734..81505634hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg383901
hg193901
hg183901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977749
Supporting Variants
SamplesHGDP00521
Known GenesBTBD1
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)nssv2034737
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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